A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056500



Internal ID18799031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21107318..21490993hg38UCSC Ensembl
Innerchr22:21461607..21845282hg19UCSC Ensembl
Innerchr22:19791607..20175282hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38383676
hg19383676
hg18383676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4486n100
Supporting Variantsnssv3587391
Samples
Known GenesBCRP2, FAM230B, HIC2, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056500
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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