A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704988



Internal ID15094954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11738979..11739048hg38UCSC Ensembl
Innerchr2:11879105..11879174hg19UCSC Ensembl
Innerchr2:11796556..11796625hg18UCSC Ensembl
Innerchr2:11829703..11829772hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
hg1770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528398
Supporting Variants
Samples
Known GenesLPIN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704988
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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