A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517530



Internal ID15098137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35745536..35750409hg38UCSC Ensembl
Innerchr17:34072555..34077428hg19UCSC Ensembl
Innerchr17:31096668..31101541hg18UCSC Ensembl
Innerchr17:31096668..31101541hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg384874
hg194874
hg184874
hg174874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv652282, nssv704642, nssv687151
Samples
Known GenesGAS2L2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517530
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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