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nsv6314228

  • Variant Calls:4
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1
  • Description:46;XX;t(6;7;17)(p23;p22;q25)pat AND Isolated Pierre-Robin syndrome
  • Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 91 SVs from 16 studies. See in: genome view    
Remapped(Score: Perfect):16,030,475-16,030,475Question Mark
Overlapping variant regions from other studies: 91 SVs from 16 studies. See in: genome view    
Remapped(Score: Perfect):16,030,478-16,030,478Question Mark
Overlapping variant regions from other studies: 93 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):10,765,436-10,765,436Question Mark
Overlapping variant regions from other studies: 93 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):10,765,438-10,765,438Question Mark
Overlapping variant regions from other studies: 80 SVs from 13 studies. See in: genome view    
Remapped(Score: Perfect):70,769,700-70,769,700Question Mark
Overlapping variant regions from other studies: 80 SVs from 13 studies. See in: genome view    
Remapped(Score: Perfect):70,769,701-70,769,701Question Mark
Overlapping variant regions from other studies: 80 SVs from 13 studies. See in: genome view    
Remapped(Score: Perfect):71,044,361-71,044,361Question Mark
Overlapping variant regions from other studies: 80 SVs from 13 studies. See in: genome view    
Remapped(Score: Perfect):71,044,362-71,044,362Question Mark
Overlapping variant regions from other studies: 91 SVs from 16 studies. See in: genome view    
Submitted genomic16,030,706-16,030,706Question Mark
Overlapping variant regions from other studies: 91 SVs from 16 studies. See in: genome view    
Submitted genomic16,030,709-16,030,709Question Mark
Overlapping variant regions from other studies: 93 SVs from 31 studies. See in: genome view    
Submitted genomic10,805,063-10,805,063Question Mark
Overlapping variant regions from other studies: 93 SVs from 31 studies. See in: genome view    
Submitted genomic10,805,065-10,805,065Question Mark
Overlapping variant regions from other studies: 80 SVs from 13 studies. See in: genome view    
Submitted genomic68,765,841-68,765,841Question Mark
Overlapping variant regions from other studies: 80 SVs from 13 studies. See in: genome view    
Submitted genomic68,765,842-68,765,842Question Mark
Overlapping variant regions from other studies: 80 SVs from 13 studies. See in: genome view    
Submitted genomic69,040,502-69,040,502Question Mark
Overlapping variant regions from other studies: 80 SVs from 13 studies. See in: genome view    
Submitted genomic69,040,503-69,040,503Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314228RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr616,030,47516,030,475+
nsv6314228RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr616,030,47816,030,478+
nsv6314228RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr710,765,43610,765,436-
nsv6314228RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr710,765,43810,765,438+
nsv6314228RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000017.11Chr1770,769,70070,769,700+
nsv6314228RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000017.11Chr1770,769,70170,769,701+
nsv6314228RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000017.11Chr1771,044,36171,044,361+
nsv6314228RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000017.11Chr1771,044,36271,044,362-
nsv6314228Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr616,030,70616,030,706+
nsv6314228Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr616,030,70916,030,709+
nsv6314228Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr710,805,06310,805,063-
nsv6314228Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr710,805,06510,805,065+
nsv6314228Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000017.10Chr1768,765,84168,765,841+
nsv6314228Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000017.10Chr1768,765,84268,765,842+
nsv6314228Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000017.10Chr1769,040,50269,040,502+
nsv6314228Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000017.10Chr1769,040,50369,040,503-

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975649interchromosomal translocationMultipleMultipleIsolated Pierre Robin syndrome; PIERRE ROBIN SYNDROME; PRBNS; Pierre-Robin sequence; Robin sequenceUncertain significanceClinVarRCV000258659.1, VCV000267909.1
nssv17975648interchromosomal translocationMultipleMultipleIsolated Pierre Robin syndrome; PIERRE ROBIN SYNDROME; PRBNS; Pierre-Robin sequence; Robin sequenceUncertain significanceClinVarRCV000258659.1, VCV000267909.1
nssv17975650interchromosomal translocationMultipleMultipleIsolated Pierre Robin syndrome; PIERRE ROBIN SYNDROME; PRBNS; Pierre-Robin sequence; Robin sequenceUncertain significanceClinVarRCV000258659.1, VCV000267909.1
nssv17975647intrachromosomal translocationMultipleMultipleIsolated Pierre Robin syndrome; PIERRE ROBIN SYNDROME; PRBNS; Pierre-Robin sequence; Robin sequenceUncertain significanceClinVarRCV000258659.1, VCV000267909.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreAssemblyReciprocitySequence IDChrStartStopstrand
nssv17975649RemappedPerfectGRCh38.p12First PassNC_000006.12Chr616,030,47516,030,475+
nssv17975648RemappedPerfectGRCh38.p12First PassNC_000006.12Chr616,030,47816,030,478+
nssv17975650RemappedPerfectGRCh38.p12First PassNC_000007.14Chr710,765,43610,765,436-
nssv17975649RemappedPerfectGRCh38.p12First PassNC_000007.14Chr710,765,43810,765,438+
nssv17975650RemappedPerfectGRCh38.p12First PassNC_000017.11Chr1770,769,70070,769,700+
nssv17975647RemappedPerfectGRCh38.p12First PassNC_000017.11Chr1770,769,70170,769,701+
nssv17975648RemappedPerfectGRCh38.p12First PassNC_000017.11Chr1771,044,36171,044,361+
nssv17975647RemappedPerfectGRCh38.p12First PassNC_000017.11Chr1771,044,36271,044,362-
nssv17975649Submitted genomicGRCh37 (hg19)NC_000006.11Chr616,030,70616,030,706+
nssv17975648Submitted genomicGRCh37 (hg19)NC_000006.11Chr616,030,70916,030,709+
nssv17975650Submitted genomicGRCh37 (hg19)NC_000007.13Chr710,805,06310,805,063-
nssv17975649Submitted genomicGRCh37 (hg19)NC_000007.13Chr710,805,06510,805,065+
nssv17975650Submitted genomicGRCh37 (hg19)NC_000017.10Chr1768,765,84168,765,841+
nssv17975647Submitted genomicGRCh37 (hg19)NC_000017.10Chr1768,765,84268,765,842+
nssv17975648Submitted genomicGRCh37 (hg19)NC_000017.10Chr1769,040,50269,040,502+
nssv17975647Submitted genomicGRCh37 (hg19)NC_000017.10Chr1769,040,50369,040,503-

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975649interchromosomal translocationpaternalIsolated Pierre Robin syndrome; PIERRE ROBIN SYNDROME; PRBNS; Pierre-Robin sequence; Robin sequenceUncertain significanceClinVarRCV000258659.1, VCV000267909.1
nssv17975648interchromosomal translocationpaternalIsolated Pierre Robin syndrome; PIERRE ROBIN SYNDROME; PRBNS; Pierre-Robin sequence; Robin sequenceUncertain significanceClinVarRCV000258659.1, VCV000267909.1
nssv17975650interchromosomal translocationpaternalIsolated Pierre Robin syndrome; PIERRE ROBIN SYNDROME; PRBNS; Pierre-Robin sequence; Robin sequenceUncertain significanceClinVarRCV000258659.1, VCV000267909.1
nssv17975647intrachromosomal translocationpaternalIsolated Pierre Robin syndrome; PIERRE ROBIN SYNDROME; PRBNS; Pierre-Robin sequence; Robin sequenceUncertain significanceClinVarRCV000258659.1, VCV000267909.1

No genotype data were submitted for this variant

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