A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv947146



Internal ID15894416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41865721..41898934hg38UCSC Ensembl
Innerchr21:43285830..43319043hg19UCSC Ensembl
Innerchr21:42158899..42192112hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3833214
hg1933214
hg1833214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587567
Supporting Variants
Samples
Known GenesC2CD2, PRDM15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv947146
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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