A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584763



Internal ID16025486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238238488..238241250hg38UCSC Ensembl
Innerchr2:239147129..239149891hg19UCSC Ensembl
Innerchr2:238811868..238814630hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382763
hg192763
hg182763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7349n54
Supporting Variantsnssv933716
Samples
Known GenesHES6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584763
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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