A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152419



Internal ID15533767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43419802hg38UCSC Ensembl
Innerchr21:44823479..44839682hg19UCSC Ensembl
Innerchr21:43647907..43664110hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3816204
hg1916204
hg1816204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587672
Supporting Variants
SamplesNINDS_211
Known GenesSIK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152419
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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