A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2787090



Internal ID15401678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10435580..10442133hg38UCSC Ensembl
Innerchr12:10588179..10594732hg19UCSC Ensembl
Innerchr12:10479446..10485999hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg386554
hg196554
hg186554
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514645
Supporting Variants
SamplesNA19160
Known GenesKLRC2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2787090
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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