A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999018



Internal ID19158554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210733897..210825964hg38UCSC Ensembl
Innerchr1:210907239..210999306hg19UCSC Ensembl
Innerchr1:208973862..209065929hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3892068
hg1992068
hg1892068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3499758
Samples
Known GenesKCNH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999018
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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