A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv912194



Internal ID16206150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75210056..75260448hg38UCSC Ensembl
Innerchr2:75437182..75487574hg19UCSC Ensembl
Innerchr2:75290690..75341082hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3850393
hg1950393
hg1850393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582219
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv912194
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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