A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699262



Internal ID15089228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44815427..44843561hg38UCSC Ensembl
Innerchr17:42892795..42920929hg19UCSC Ensembl
Innerchr17:40248321..40276455hg18UCSC Ensembl
Innerchr17:40248321..40276455hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3828135
hg1928135
hg1828135
hg1728135
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523493
Supporting Variants
Samples
Known GenesGJC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699262
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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