A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv668730



Internal ID15405382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240446935..240463597hg38UCSC Ensembl
Innerchr2:241386352..241403014hg19UCSC Ensembl
Innerchr2:241035025..241051687hg18UCSC Ensembl
Innerchr2:241106342..241123004hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3816663
hg1916663
hg1816663
hg1716663
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)nssv668730
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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