A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574600



Internal ID16015323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21358248..21399695hg38UCSC Ensembl
Innerchr17:21261560..21303007hg19UCSC Ensembl
Innerchr17:21202153..21243600hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3841448
hg1941448
hg1841448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149760
Samples1780854462_A
Known GenesKCNJ12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574600
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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