A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583439



Internal ID16024162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157815188..157847786hg38UCSC Ensembl
Innerchr2:158671700..158704298hg19UCSC Ensembl
Innerchr2:158379946..158412544hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3832599
hg1932599
hg1832599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv922156
Samples
Known GenesACVR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583439
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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