A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519031



Internal ID15099638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99587748..99589094hg38UCSC Ensembl
Innerchr12:99981526..99982872hg19UCSC Ensembl
Innerchr12:98505657..98507003hg18UCSC Ensembl
Innerchr12:98483994..98485340hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381347
hg191347
hg181347
hg171347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696500
Samples
Known GenesANKS1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519031
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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