A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951970



Internal ID16245926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21369914..21417948hg38UCSC Ensembl
Innerchr22:21724203..21772237hg19UCSC Ensembl
Innerchr22:20054203..20102237hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3848035
hg1948035
hg1848035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588319
Supporting Variants
Samples
Known GenesHIC2, RIMBP3B, RIMBP3C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951970
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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