A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583602



Internal ID16024325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169450481..169512288hg38UCSC Ensembl
Innerchr2:170306991..170368798hg19UCSC Ensembl
Innerchr2:170015237..170077044hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3861808
hg1961808
hg1861808
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925277
Samples
Known GenesBBS5, KLHL41
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583602
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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