A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv667288



Internal ID15403940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240429634..240466111hg38UCSC Ensembl
Innerchr2:241369051..241405528hg19UCSC Ensembl
Innerchr2:241017724..241054201hg18UCSC Ensembl
Innerchr2:241089041..241125518hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3836478
hg1936478
hg1836478
hg1736478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516179
Supporting Variants
Samples
Known GenesGPC1, MIR149, PP14571
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv667288
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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