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nsv6314368

  • Variant Calls:6
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 106 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):22,479,489-22,479,489Question Mark
Overlapping variant regions from other studies: 106 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):22,479,489-22,479,489Question Mark
Overlapping variant regions from other studies: 106 SVs from 29 studies. See in: genome view    
Remapped(Score: Perfect):28,811,079-28,811,079Question Mark
Overlapping variant regions from other studies: 106 SVs from 29 studies. See in: genome view    
Remapped(Score: Perfect):28,811,079-28,811,079Question Mark
Overlapping variant regions from other studies: 88 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):29,096,550-29,096,550Question Mark
Overlapping variant regions from other studies: 88 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):29,096,550-29,096,550Question Mark
Overlapping variant regions from other studies: 104 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):29,620,649-29,620,649Question Mark
Overlapping variant regions from other studies: 104 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):29,620,649-29,620,649Question Mark
Overlapping variant regions from other studies: 116 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):59,089,722-59,089,722Question Mark
Overlapping variant regions from other studies: 116 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):59,089,722-59,089,722Question Mark
Overlapping variant regions from other studies: 117 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):60,225,035-60,225,035Question Mark
Overlapping variant regions from other studies: 117 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):60,225,035-60,225,035Question Mark
Overlapping variant regions from other studies: 106 SVs from 27 studies. See in: genome view    
Submitted genomic22,632,423-22,632,423Question Mark
Overlapping variant regions from other studies: 106 SVs from 27 studies. See in: genome view    
Submitted genomic22,632,423-22,632,423Question Mark
Overlapping variant regions from other studies: 106 SVs from 29 studies. See in: genome view    
Submitted genomic28,964,012-28,964,012Question Mark
Overlapping variant regions from other studies: 106 SVs from 29 studies. See in: genome view    
Submitted genomic28,964,012-28,964,012Question Mark
Overlapping variant regions from other studies: 88 SVs from 24 studies. See in: genome view    
Submitted genomic29,249,483-29,249,483Question Mark
Overlapping variant regions from other studies: 88 SVs from 24 studies. See in: genome view    
Submitted genomic29,249,483-29,249,483Question Mark
Overlapping variant regions from other studies: 104 SVs from 27 studies. See in: genome view    
Submitted genomic29,773,582-29,773,582Question Mark
Overlapping variant regions from other studies: 104 SVs from 27 studies. See in: genome view    
Submitted genomic29,773,582-29,773,582Question Mark
Overlapping variant regions from other studies: 116 SVs from 25 studies. See in: genome view    
Submitted genomic59,483,503-59,483,503Question Mark
Overlapping variant regions from other studies: 116 SVs from 25 studies. See in: genome view    
Submitted genomic59,483,503-59,483,503Question Mark
Overlapping variant regions from other studies: 117 SVs from 22 studies. See in: genome view    
Submitted genomic60,618,816-60,618,816Question Mark
Overlapping variant regions from other studies: 117 SVs from 22 studies. See in: genome view    
Submitted genomic60,618,816-60,618,816Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1222,479,48922,479,489+
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1222,479,48922,479,489+
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1228,811,07928,811,079+
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1228,811,07928,811,079-
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1229,096,55029,096,550+
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1229,096,55029,096,550+
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1229,620,64929,620,649+
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1229,620,64929,620,649+
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1259,089,72259,089,722-
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1259,089,72259,089,722+
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1260,225,03560,225,035+
nsv6314368RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1260,225,03560,225,035+
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1222,632,42322,632,423+
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1222,632,42322,632,423+
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1228,964,01228,964,012-
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1228,964,01228,964,012+
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1229,249,48329,249,483+
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1229,249,48329,249,483+
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1229,773,58229,773,582+
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1229,773,58229,773,582+
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1259,483,50359,483,503+
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1259,483,50359,483,503-
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1260,618,81660,618,816+
nsv6314368Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1260,618,81660,618,816+

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17976028intrachromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1
nssv17976031copy number lossMultipleMultipleAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1
nssv17976030intrachromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1
nssv17976029intrachromosomal translocationMultipleMultipleAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1
nssv17976032copy number lossMultipleMultipleAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1
nssv17976033copy number lossMultipleMultipleAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv17976028RemappedPerfectGRCh38.p12First PassNC_000012.12Chr1222,479,48922,479,489+
nssv17976031RemappedPerfectNC_000012.12:g.224
79489delNC_000012.
12:g.28811079del		GRCh38.p12First PassNC_000012.12Chr1222,479,48922,479,489
nssv17976030RemappedPerfectGRCh38.p12First PassNC_000012.12Chr1228,811,07928,811,079-
nssv17976031RemappedPerfectNC_000012.12:g.224
79489delNC_000012.
12:g.28811079del		GRCh38.p12First PassNC_000012.12Chr1228,811,07928,811,079
nssv17976029RemappedPerfectGRCh38.p12First PassNC_000012.12Chr1229,096,55029,096,550+
nssv17976032RemappedPerfectNC_000012.12:g.290
96550delNC_000012.
12:g.29620649del		GRCh38.p12First PassNC_000012.12Chr1229,096,55029,096,550
nssv17976028RemappedPerfectGRCh38.p12First PassNC_000012.12Chr1229,620,64929,620,649+
nssv17976032RemappedPerfectNC_000012.12:g.290
96550delNC_000012.
12:g.29620649del		GRCh38.p12First PassNC_000012.12Chr1229,620,64929,620,649
nssv17976029RemappedPerfectGRCh38.p12First PassNC_000012.12Chr1259,089,72259,089,722-
nssv17976033RemappedPerfectNC_000012.12:g.590
89722delNC_000012.
12:g.60225035del		GRCh38.p12First PassNC_000012.12Chr1259,089,72259,089,722
nssv17976030RemappedPerfectGRCh38.p12First PassNC_000012.12Chr1260,225,03560,225,035+
nssv17976033RemappedPerfectNC_000012.12:g.590
89722delNC_000012.
12:g.60225035del		GRCh38.p12First PassNC_000012.12Chr1260,225,03560,225,035
nssv17976028Submitted genomicGRCh37 (hg19)NC_000012.11Chr1222,632,42322,632,423+
nssv17976031Submitted genomicNC_000012.11:g.226
32423delNC_000012.
11:g.28964012del		GRCh37 (hg19)NC_000012.11Chr1222,632,42322,632,423
nssv17976030Submitted genomicGRCh37 (hg19)NC_000012.11Chr1228,964,01228,964,012-
nssv17976031Submitted genomicNC_000012.11:g.226
32423delNC_000012.
11:g.28964012del		GRCh37 (hg19)NC_000012.11Chr1228,964,01228,964,012
nssv17976029Submitted genomicGRCh37 (hg19)NC_000012.11Chr1229,249,48329,249,483+
nssv17976032Submitted genomicNC_000012.11:g.297
73582delNC_000012.
11:g.29249483del		GRCh37 (hg19)NC_000012.11Chr1229,249,48329,249,483
nssv17976028Submitted genomicGRCh37 (hg19)NC_000012.11Chr1229,773,58229,773,582+
nssv17976032Submitted genomicNC_000012.11:g.297
73582delNC_000012.
11:g.29249483del		GRCh37 (hg19)NC_000012.11Chr1229,773,58229,773,582
nssv17976029Submitted genomicGRCh37 (hg19)NC_000012.11Chr1259,483,50359,483,503-
nssv17976033Submitted genomicNC_000012.11:g.594
83503delNC_000012.
11:g.60618816del		GRCh37 (hg19)NC_000012.11Chr1259,483,50359,483,503
nssv17976030Submitted genomicGRCh37 (hg19)NC_000012.11Chr1260,618,81660,618,816+
nssv17976033Submitted genomicNC_000012.11:g.594
83503delNC_000012.
11:g.60618816del		GRCh37 (hg19)NC_000012.11Chr1260,618,81660,618,816

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17976028intrachromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1
nssv17976031GRCh37: NC_000012.11:g.22632423delNC_000012.11:g.28964012delcopy number lossde novoAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1
nssv17976030intrachromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1
nssv17976029intrachromosomal translocationde novoAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1
nssv17976032GRCh37: NC_000012.11:g.29773582delNC_000012.11:g.29249483delcopy number lossde novoAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1
nssv17976033GRCh37: NC_000012.11:g.59483503delNC_000012.11:g.60618816delcopy number lossde novoAbnormal facial shape; Abnormal facial shape; Accelerated skeletal maturation; Accelerated skeletal maturation; Broad hallux phalanx; Broad hallux phalanx; Broad thumb; Broad thumb; Cafe-au-lait spot; Cafe-au-lait spot; Craniosynostoses; Craniosynostosis; Craniosynostosis; Craniosynostosis syndrome; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Growth delay; Growth delay; Hypoplastic labia majora; Hypoplastic labia majora; Microcephaly; Microcephaly; Multiple palmar creases; Multiple palmar creases; Overlapping toe; Overlapping toe; Short philtrum; Short philtrum; Strabismus; Strabismus; Thin upper lip vermilion; Thin upper lip vermilionPathogenicClinVarRCV000258781.2, VCV000267821.1

No genotype data were submitted for this variant

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