A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019282



Internal ID19108500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101323805..101477234hg38UCSC Ensembl
Innerchr7:100967086..101120515hg19UCSC Ensembl
Innerchr7:100753806..100907235hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38153430
hg19153430
hg18153430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6537n100
Supporting Variantsnssv3655313, nssv3655314
Samples
Known GenesCOL26A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019282
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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