A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv790060



Internal ID16084016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779952..27782535hg38UCSC Ensembl
Innerchr12:27932885..27935468hg19UCSC Ensembl
Innerchr12:27824152..27826735hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382584
hg192584
hg182584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557845
Supporting Variants
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv790060
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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