A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698450



Internal ID15088416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26671721..26705943hg38UCSC Ensembl
Innerchr2:26894589..26928811hg19UCSC Ensembl
Innerchr2:26748093..26782315hg18UCSC Ensembl
Innerchr2:26806240..26840462hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3834223
hg1934223
hg1834223
hg1734223
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522805
Supporting Variants
Samples
Known GenesKCNK3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698450
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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