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nsv6314573

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1
  • Description:46;XY;inv(9)(p24q12) 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: 375 SVs from 49 studies. See in: genome view    
Remapped(Score: Perfect):201,090-201,090Question Mark
Overlapping variant regions from other studies: 375 SVs from 49 studies. See in: genome view    
Remapped(Score: Perfect):201,106-201,106Question Mark
Overlapping variant regions from other studies: 227 SVs from 55 studies. See in: genome view    
Remapped(Score: Perfect):63,838,723-63,838,723Question Mark
Overlapping variant regions from other studies: 63 SVs from 30 studies. See in: genome view    
Remapped(Score: Perfect):68,221,094-68,221,094Question Mark
Overlapping variant regions from other studies: 373 SVs from 47 studies. See in: genome view    
Submitted genomic201,090-201,090Question Mark
Overlapping variant regions from other studies: 373 SVs from 47 studies. See in: genome view    
Submitted genomic201,106-201,106Question Mark
Overlapping variant regions from other studies: 181 SVs from 51 studies. See in: genome view    
Submitted genomic68,434,457-68,434,457Question Mark
Overlapping variant regions from other studies: 78 SVs from 33 studies. See in: genome view    
Submitted genomic70,836,010-70,836,010Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314573RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr9201,090201,090+
nsv6314573RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr9201,106201,106-
nsv6314573RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr963,838,72363,838,723-
nsv6314573RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr968,221,09468,221,094+
nsv6314573Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr9201,090201,090+
nsv6314573Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr9201,106201,106-
nsv6314573Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr968,434,45768,434,457-
nsv6314573Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr970,836,01070,836,010+

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975326inversionMultipleMultipleAbnormal facial shape; Abnormal facial shape; Involuntary movements; Involuntary movements; Seizure; Seizures; Ventricular septal defect; Ventricular septal defect; Ventricular septal defectUncertain significanceClinVarRCV000258558.1, VCV000267988.1
nssv17975327inversionMultipleMultipleAbnormal facial shape; Abnormal facial shape; Involuntary movements; Involuntary movements; Seizure; Seizures; Ventricular septal defect; Ventricular septal defect; Ventricular septal defectUncertain significanceClinVarRCV000258558.1, VCV000267988.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17975326RemappedPerfectNC_000009.12:g.201
090invNC_000009.12
:g.63838723inv		GRCh38.p12First PassNC_000009.12Chr9201,090201,090
nssv17975327RemappedPerfectNC_000009.12:g.201
106invNC_000009.12
:g.68221094inv		GRCh38.p12First PassNC_000009.12Chr9201,106201,106
nssv17975326RemappedPerfectNC_000009.12:g.201
090invNC_000009.12
:g.63838723inv		GRCh38.p12First PassNC_000009.12Chr963,838,72363,838,723
nssv17975327RemappedPerfectNC_000009.12:g.201
106invNC_000009.12
:g.68221094inv		GRCh38.p12First PassNC_000009.12Chr968,221,09468,221,094
nssv17975326Submitted genomicNC_000009.11:g.201
090invNC_000009.11
:g.68434457inv		GRCh37 (hg19)NC_000009.11Chr9201,090201,090
nssv17975327Submitted genomicNC_000009.11:g.708
36010invNC_000009.
11:g.201106inv		GRCh37 (hg19)NC_000009.11Chr9201,106201,106
nssv17975326Submitted genomicNC_000009.11:g.201
090invNC_000009.11
:g.68434457inv		GRCh37 (hg19)NC_000009.11Chr968,434,45768,434,457
nssv17975327Submitted genomicNC_000009.11:g.708
36010invNC_000009.
11:g.201106inv		GRCh37 (hg19)NC_000009.11Chr970,836,01070,836,010

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975326GRCh37: NC_000009.11:g.201090invNC_000009.11:g.68434457invinversionunknownAbnormal facial shape; Abnormal facial shape; Involuntary movements; Involuntary movements; Seizure; Seizures; Ventricular septal defect; Ventricular septal defect; Ventricular septal defectUncertain significanceClinVarRCV000258558.1, VCV000267988.1
nssv17975327GRCh37: NC_000009.11:g.70836010invNC_000009.11:g.201106invinversionunknownAbnormal facial shape; Abnormal facial shape; Involuntary movements; Involuntary movements; Seizure; Seizures; Ventricular septal defect; Ventricular septal defect; Ventricular septal defectUncertain significanceClinVarRCV000258558.1, VCV000267988.1

No genotype data were submitted for this variant

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