A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583032



Internal ID16023755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127013430..127087159hg38UCSC Ensembl
Innerchr2:127771006..127844735hg19UCSC Ensembl
Innerchr2:127487476..127561205hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3873730
hg1973730
hg1873730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv919659
Samples
Known GenesBIN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583032
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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