A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580929



Internal ID16368338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9406047..9406676hg38UCSC Ensembl
Innerchr2:9546176..9546805hg19UCSC Ensembl
Innerchr2:9463627..9464256hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv903611
Samples
Known GenesITGB1BP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580929
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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