A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516812



Internal ID15097419
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671101, nssv662957, nssv697276
Samples
Known GenesELF3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516812
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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