A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056069



Internal ID19145288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16549902..16873057hg38UCSC Ensembl
Innerchr22:17030792..17353947hg19UCSC Ensembl
Innerchr22:15410792..15733947hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38323156
hg19323156
hg18323156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4461n100
Supporting Variantsnssv3589317
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, HSFY1P1, TPTEP1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056069
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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