A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559958



Internal ID16000681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99649867..99723362hg38UCSC Ensembl
Innerchr12:100043645..100117140hg19UCSC Ensembl
Innerchr12:98567776..98641271hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3873496
hg1973496
hg1873496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801473
Samples
Known GenesANKS1B, FAM71C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559958
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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