A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176250



Internal ID15877450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17687030..17715299hg38UCSC Ensembl
Innerchr12:17839964..17868233hg19UCSC Ensembl
Innerchr12:17731231..17759500hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3828270
hg1928270
hg1828270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557657
Supporting Variants
SamplesHGDP00993
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176250
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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