A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694430



Internal ID15084396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172983506..172985671hg38UCSC Ensembl
Innerchr5:172410509..172412674hg19UCSC Ensembl
Innerchr5:172343115..172345280hg18UCSC Ensembl
Innerchr5:172343115..172345280hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382166
hg192166
hg182166
hg172166
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521290
Supporting Variants
Samples
Known GenesATP6V0E1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694430
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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