A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681443



Internal ID15071409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43419802hg38UCSC Ensembl
Innerchr21:44823479..44839682hg19UCSC Ensembl
Innerchr21:43647907..43664110hg18UCSC Ensembl
Innerchr21:43647907..43664110hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3816204
hg1916204
hg1816204
hg1716204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516339
Supporting Variants
Samples
Known GenesSIK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681443
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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