A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150740



Internal ID15508838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158394135..158469413hg38UCSC Ensembl
Innerchr2:159250647..159325925hg19UCSC Ensembl
Innerchr2:158958893..159034171hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3875279
hg1975279
hg1875279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583442
Supporting Variants
Samples1782681093_A
Known GenesCCDC148, PKP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150740
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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