A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948318



Internal ID15895588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44297667..44300692hg38UCSC Ensembl
Innerchr21:45717550..45720575hg19UCSC Ensembl
Innerchr21:44541978..44545003hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383026
hg193026
hg183026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587777
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)nssv948318
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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