A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948407



Internal ID15895677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44678628..44707819hg38UCSC Ensembl
Innerchr21:46098545..46127734hg19UCSC Ensembl
Innerchr21:44922973..44952162hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3829192
hg1929190
hg1829190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587811
Supporting Variants
Samples
Known GenesKRTAP10-12, KRTAP12-1, TSPEAR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948407
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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