A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523162



Internal ID15103769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20389246..21108064hg38UCSC Ensembl
Innerchr22:20743536..21462353hg19UCSC Ensembl
Innerchr22:19073536..19792353hg18UCSC Ensembl
Innerchr22:19068090..19786907hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38718819
hg19718818
hg18718818
hg17718818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698872
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
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523162
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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