A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518732



Internal ID15099339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215224669..215228679hg38UCSC Ensembl
Innerchr1:215398012..215402022hg19UCSC Ensembl
Innerchr1:213464635..213468645hg18UCSC Ensembl
Innerchr1:211786407..211790417hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384011
hg194011
hg184011
hg174011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24n21
Supporting Variantsnssv694267
Samples
Known GenesKCNK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518732
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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