A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699868



Internal ID15089834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241184874..241253433hg38UCSC Ensembl
Innerchr2:242124289..242192848hg19UCSC Ensembl
Innerchr2:241772962..241841521hg18UCSC Ensembl
Innerchr2:241844279..241912838hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3868560
hg1968560
hg1868560
hg1768560
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524008
Supporting Variants
Samples
Known GenesANO7, HDLBP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699868
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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