A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696351



Internal ID15086317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47810585..47952066hg38UCSC Ensembl
Innerchr17:45887951..46029432hg19UCSC Ensembl
Innerchr17:43242950..43384431hg18UCSC Ensembl
Innerchr17:43242950..43384431hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38141482
hg19141482
hg18141482
hg17141482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518892
Supporting Variants
Samples
Known GenesLOC100506325, LRRC46, MRPL10, OSBPL7, PNPO, PRR15L, SCRN2, SP2, SP6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696351
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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