nsv3924370

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:3,582,082
  • Description:GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 9518 SVs from 105 studies. See in: genome view    
Submitted genomic125,055,865-128,637,946Question Mark
Overlapping variant regions from other studies: 9518 SVs from 105 studies. See in: genome view    
Submitted genomic127,818,144-131,400,225Question Mark
Overlapping variant regions from other studies: 2801 SVs from 34 studies. See in: genome view    
Submitted genomic126,857,965-130,440,046Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3924370Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000009.12Chr9125,055,865128,637,946
nsv3924370Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr9127,818,144131,400,225
nsv3924370Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000009.10Chr9126,857,965130,440,046

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15134565copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000137787.41

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15134565Submitted genomicNC_000009.12:g.(?_
125055865)_(128637
946_?)del
GRCh38 (hg38)NC_000009.12Chr9125,055,865128,637,946
nssv15134565Submitted genomicNC_000009.11:g.(?_
127818144)_(131400
225_?)del
GRCh37 (hg19)NC_000009.11Chr9127,818,144131,400,225
nssv15134565Submitted genomicNC_000009.10:g.(?_
126857965)_(130440
046_?)del
NCBI36 (hg18)NC_000009.10Chr9126,857,965130,440,046

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15134565GRCh37: NC_000009.11:g.(?_127818144)_(131400225_?)del, GRCh38: NC_000009.12:g.(?_125055865)_(128637946_?)del, NCBI36: NC_000009.10:g.(?_126857965)_(130440046_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000137787.41

No genotype data were submitted for this variant

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