A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703400



Internal ID15093366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11683459..11693333hg38UCSC Ensembl
Innerchr2:11823585..11833459hg19UCSC Ensembl
Innerchr2:11741036..11750910hg18UCSC Ensembl
Innerchr2:11774183..11784057hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg389875
hg199875
hg189875
hg179875
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527025
Supporting Variants
Samples
Known GenesLPIN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703400
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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