A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056096



Internal ID18798627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21212930..21597273hg38UCSC Ensembl
Innerchr22:21567219..21951562hg19UCSC Ensembl
Innerchr22:19897219..20281562hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38384344
hg19384344
hg18384344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4488n100
Supporting Variantsnssv3587509
Samples
Known GenesHIC2, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056096
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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