A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951943



Internal ID15899213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20379205..21011095hg38UCSC Ensembl
Innerchr22:20733495..21365384hg19UCSC Ensembl
Innerchr22:19063495..19695384hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38631891
hg19631890
hg18631890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588294
Supporting Variants
Samples
Known GenesAIFM3, CRKL, KLHL22, LZTR1, MED15, PI4KA, POM121L4P, SCARF2, SERPIND1, SNAP29, THAP7, THAP7-AS1, TMEM191A, TUBA3FP, ZNF74
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951943
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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