A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176288



Internal ID15879044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31850394..31910068hg38UCSC Ensembl
Innerchr12:32003328..32063002hg19UCSC Ensembl
Innerchr12:31894595..31954269hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3859675
hg1959675
hg1859675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558144
Supporting Variants
SamplesHGDP01299
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176288
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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