A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518299



Internal ID15098906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4077033..4246965hg38UCSC Ensembl
Innerchr7:4116665..4286597hg19UCSC Ensembl
Innerchr7:4083191..4253123hg18UCSC Ensembl
Innerchr7:3889906..4059838hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38169933
hg19169933
hg18169933
hg17169933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695730
Samples
Known GenesSDK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518299
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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