A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583425



Internal ID16024148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:154746968..154764290hg38UCSC Ensembl
Innerchr2:155603480..155620802hg19UCSC Ensembl
Innerchr2:155311726..155329048hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3817323
hg1917323
hg1817323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7127n54
Supporting Variantsnssv922086
Samples
Known GenesKCNJ3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583425
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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