A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2797944



Internal ID15433845
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514685
Supporting Variants
SamplesNA21361
Known GenesANKS1B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2797944
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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