A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv786933



Internal ID16080889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5151323..5170001hg38UCSC Ensembl
Innerchr12:5260489..5279167hg19UCSC Ensembl
Innerchr12:5130750..5149428hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3818679
hg1918679
hg1818679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557152
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)nssv786933
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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