A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062939



Internal ID18805470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41690018..41771731hg38UCSC Ensembl
Innerchr22:42086022..42167735hg19UCSC Ensembl
Innerchr22:40415968..40497681hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3881714
hg1981714
hg1881714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3590813
Samples
Known GenesC22orf46, MEI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062939
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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