A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584974



Internal ID16025697
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 StatusM
Merged Variants
Supporting Variantsnssv934779
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)nsv584974
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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