A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060684



Internal ID18803215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33712476..33744666hg38UCSC Ensembl
Innerchr22:34108462..34140653hg19UCSC Ensembl
Innerchr22:32438462..32470653hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3832191
hg1932192
hg1832192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3734205
Samples
Known GenesLARGE, LARGE-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060684
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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