A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv733933



Internal ID16027889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196217620..196324363hg38UCSC Ensembl
Innerchr1:196186750..196293493hg19UCSC Ensembl
Innerchr1:194453373..194560116hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38106744
hg19106744
hg18106744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548741
Supporting Variants
Samples
Known GenesKCNT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv733933
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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