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nsv6314422

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1
  • Description:
    46;XX;inv(7)(p13q11.23) AND multiple conditions
  • Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 55 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):47,033,206-47,033,206Question Mark
Overlapping variant regions from other studies: 56 SVs from 21 studies. See in: genome view    
Remapped(Score: Perfect):47,092,259-47,092,259Question Mark
Overlapping variant regions from other studies: 115 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):69,940,754-69,940,754Question Mark
Overlapping variant regions from other studies: 126 SVs from 27 studies. See in: genome view    
Remapped(Score: Perfect):69,978,935-69,978,935Question Mark
Overlapping variant regions from other studies: 55 SVs from 23 studies. See in: genome view    
Submitted genomic47,072,804-47,072,804Question Mark
Overlapping variant regions from other studies: 56 SVs from 21 studies. See in: genome view    
Submitted genomic47,131,857-47,131,857Question Mark
Overlapping variant regions from other studies: 115 SVs from 25 studies. See in: genome view    
Submitted genomic69,405,740-69,405,740Question Mark
Overlapping variant regions from other studies: 126 SVs from 27 studies. See in: genome view    
Submitted genomic69,443,921-69,443,921Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314422RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr747,033,20647,033,206-
nsv6314422RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr747,092,25947,092,259+
nsv6314422RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr769,940,75469,940,754+
nsv6314422RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr769,978,93569,978,935-
nsv6314422Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr747,072,80447,072,804-
nsv6314422Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr747,131,85747,131,857+
nsv6314422Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr769,405,74069,405,740+
nsv6314422Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr769,443,92169,443,921-

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975975inversionMultipleMultipleAbnormal facial shape; Abnormal facial shape; Atypical behavior; Behavioral abnormalityPathogenicClinVarRCV000258763.1, VCV000267970.1
nssv17975936inversionMultipleMultipleAbnormal facial shape; Abnormal facial shape; Atypical behavior; Behavioral abnormalityPathogenicClinVarRCV000258763.1, VCV000267970.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17975975RemappedPerfectNC_000007.14:g.699
40754inv673NC_0000
07.14:g.47033206in
v673		GRCh38.p12First PassNC_000007.14Chr747,033,20647,033,206
nssv17975936RemappedPerfectNC_000007.14:g.470
92259invNC_000007.
14:g.69978935inv		GRCh38.p12First PassNC_000007.14Chr747,092,25947,092,259
nssv17975975RemappedPerfectNC_000007.14:g.699
40754inv673NC_0000
07.14:g.47033206in
v673		GRCh38.p12First PassNC_000007.14Chr769,940,75469,940,754
nssv17975936RemappedPerfectNC_000007.14:g.470
92259invNC_000007.
14:g.69978935inv		GRCh38.p12First PassNC_000007.14Chr769,978,93569,978,935
nssv17975975Submitted genomicNC_000007.13:g.470
72804inv673NC_0000
07.13:g.69405740in
v673		GRCh37 (hg19)NC_000007.13Chr747,072,80447,072,804
nssv17975936Submitted genomicNC_000007.13:g.471
31857invNC_000007.
13:g.69443921inv		GRCh37 (hg19)NC_000007.13Chr747,131,85747,131,857
nssv17975975Submitted genomicNC_000007.13:g.470
72804inv673NC_0000
07.13:g.69405740in
v673		GRCh37 (hg19)NC_000007.13Chr769,405,74069,405,740
nssv17975936Submitted genomicNC_000007.13:g.471
31857invNC_000007.
13:g.69443921inv		GRCh37 (hg19)NC_000007.13Chr769,443,92169,443,921

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975975GRCh37: NC_000007.13:g.47072804inv673NC_000007.13:g.69405740inv673inversionunknownAbnormal facial shape; Abnormal facial shape; Atypical behavior; Behavioral abnormalityPathogenicClinVarRCV000258763.1, VCV000267970.1
nssv17975936GRCh37: NC_000007.13:g.47131857invNC_000007.13:g.69443921invinversionunknownAbnormal facial shape; Abnormal facial shape; Atypical behavior; Behavioral abnormalityPathogenicClinVarRCV000258763.1, VCV000267970.1

No genotype data were submitted for this variant

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