A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176423



Internal ID15532527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99686210..99688672hg38UCSC Ensembl
Innerchr12:100079988..100082450hg19UCSC Ensembl
Innerchr12:98604119..98606581hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382463
hg192463
hg182463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559961
Supporting Variants
SamplesHGDP01328
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176423
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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