A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583424



Internal ID16024147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:154746968..154762802hg38UCSC Ensembl
Innerchr2:155603480..155619314hg19UCSC Ensembl
Innerchr2:155311726..155327560hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3815835
hg1915835
hg1815835
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7127n54
Supporting Variantsnssv922085
Samples
Known GenesKCNJ3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583424
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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