A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581158



Internal ID16368567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20223503..20225077hg38UCSC Ensembl
Innerchr2:20423264..20424838hg19UCSC Ensembl
Innerchr2:20286745..20288319hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381575
hg191575
hg181575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6731n54
Supporting Variantsnssv904418
Samples
Known GenesSDC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581158
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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