A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514685



Internal ID15466319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99583699..99629395hg38UCSC Ensembl
Innerchr12:99977477..100023173hg19UCSC Ensembl
Innerchr12:98501608..98547304hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3845697
hg1945697
hg1845697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2792625, nssv2797944, nssv2790784, nssv2790034, nssv2794106, nssv2795297, nssv2797856, nssv2789954
SamplesNA21390, NA21361, NA21686, NA21359, NA21581, NA21360, NA21362, NA21526
Known GenesANKS1B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514685
Frequency
Sample Size2366
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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