A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516997



Internal ID15097604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18143870..19039100hg38UCSC Ensembl
Innerchr22:18626637..19026613hg19UCSC Ensembl
Innerchr22:17006637..17406613hg18UCSC Ensembl
Innerchr22:17001191..17401167hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38895231
hg19399977
hg18399977
hg17399977
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687843, nssv684622, nssv683418, nssv666479, nssv691065, nssv667217, nssv676471, nssv673591, nssv662698, nssv667979, nssv662383, nssv671779, nssv682769, nssv675005, nssv657024, nssv662848, nssv683691, nssv674460, nssv683749, nssv665247, nssv656307, nssv687850, nssv672847, nssv652773, nssv656897, nssv657080, nssv668635, nssv678378, nssv653574, nssv652721, nssv689147, nssv660150, nssv689628, nssv690970, nssv670483, nssv679877, nssv659074, nssv687480, nssv656059, nssv685050, nssv660628, nssv702643, nssv689858, nssv687698, nssv684069, nssv693602, nssv685965, nssv678244, nssv685982, nssv691944, nssv672377, nssv689219, nssv676200, nssv656613
Samples
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516997
Frequency
Sample Size2026
Observed Gain33
Observed Loss21
Observed Complex0
Frequencyn/a


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