A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149762



Internal ID15878247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21370525..21533320hg38UCSC Ensembl
Innerchr17:21273837..21436581hg19UCSC Ensembl
Innerchr17:21214430..21377174hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38162796
hg19162745
hg18162745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574602
Supporting Variants
SamplesHGDP01166
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149762
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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