A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951944



Internal ID15899214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20379205..21108064hg38UCSC Ensembl
Innerchr22:20733495..21462353hg19UCSC Ensembl
Innerchr22:19063495..19792353hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38728860
hg19728859
hg18728859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588295
Supporting Variants
Samples
Known GenesAIFM3, BCRP2, CRKL, KLHL22, LOC400891, LZTR1, MED15, P2RX6, P2RX6P, PI4KA, POM121L4P, SCARF2, SERPIND1, SLC7A4, 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)nssv951944
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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