A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704081



Internal ID15094047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19655026..19657423hg38UCSC Ensembl
Innerchr8:19512537..19514934hg19UCSC Ensembl
Innerchr8:19556817..19559214hg18UCSC Ensembl
Innerchr8:19556817..19559214hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382398
hg192398
hg182398
hg172398
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527615
Supporting Variants
Samples
Known GenesCSGALNACT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704081
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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