A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588305



Internal ID16029028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20721841..21108064hg38UCSC Ensembl
Innerchr22:21076129..21462353hg19UCSC Ensembl
Innerchr22:19406129..19792353hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38386224
hg19386225
hg18386225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951954
Samples
Known GenesAIFM3, BCRP2, CRKL, LOC400891, LZTR1, P2RX6, P2RX6P, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TUBA3FP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588305
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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