A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662957



Internal ID15052923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202008699..202017290hg38UCSC Ensembl
Innerchr1:201977827..201986418hg19UCSC Ensembl
Innerchr1:200244450..200253041hg18UCSC Ensembl
Innerchr1:198709484..198718075hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg388592
hg198592
hg188592
hg178592
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516812
Supporting Variants
Samples
Known GenesELF3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv662957
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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