A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv934779



Internal ID15882049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241596093..241724325hg38UCSC Ensembl
Innerchr2:242535508..242663740hg19UCSC Ensembl
Innerchr2:242184181..242312413hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38128233
hg19128233
hg18128233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584974
Supporting Variants
Samples
Known GenesATG4B, DTYMK, ING5, THAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv934779
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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