A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064496



Internal ID18807027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19960814..19991035hg38UCSC Ensembl
Innerchr22:19948337..19978558hg19UCSC Ensembl
Innerchr22:18328337..18358558hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3830222
hg1930222
hg1830222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3587346, nssv3587347, nssv3587348
Samples
Known GenesARVCF, COMT, MIR4761
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064496
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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