A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574599



Internal ID16362008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21352097..21533320hg38UCSC Ensembl
Innerchr17:21255409..21436581hg19UCSC Ensembl
Innerchr17:21196002..21377174hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38181224
hg19181173
hg18181173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5503n54
Supporting Variantsnssv1149759
SamplesHGDP00800
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574599
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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