A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969594



Internal ID18893017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1230864..1236864hg38UCSC Ensembl
Outerchr7:1270500..1276500hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122153
Supporting Variants
SamplesKWS2
Known GenesUNCX
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969594
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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