A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948317



Internal ID15895587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44297614..44300641hg38UCSC Ensembl
Innerchr21:45717497..45720524hg19UCSC Ensembl
Innerchr21:44541925..44544952hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383028
hg193028
hg183028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587776
Supporting Variants
Samples
Known GenesAIRE, PFKL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948317
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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