A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv949348



Internal ID16243304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46380677..46422027hg38UCSC Ensembl
Innerchr21:47800592..47841941hg19UCSC Ensembl
Innerchr21:46625020..46666369hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3841351
hg1941350
hg1841350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587981
Supporting Variants
Samples
Known GenesPCNT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv949348
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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