A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801472



Internal ID15748742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99647996..99703568hg38UCSC Ensembl
Innerchr12:100041774..100097346hg19UCSC Ensembl
Innerchr12:98565905..98621477hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3855573
hg1955573
hg1855573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559957
Supporting Variants
Samples
Known GenesANKS1B, FAM71C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801472
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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