A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584956



Internal ID16372365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241234501..241248585hg38UCSC Ensembl
Innerchr2:242173916..242188000hg19UCSC Ensembl
Innerchr2:241822589..241836673hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3814085
hg1914085
hg1814085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv934618
Samples
Known GenesHDLBP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584956
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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