A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558044



Internal ID15998767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31113353..31255577hg38UCSC Ensembl
Innerchr12:31266287..31408511hg19UCSC Ensembl
Innerchr12:31157554..31299778hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38142225
hg19142225
hg18142225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2464n54
Supporting Variantsnssv1176266, nssv1176264, nssv1176267, nssv1176265
SamplesHGDP00514, HGDP01274, HGDP00224, HGDP00230
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558044
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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