A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030543



Internal ID19119762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101323805..101473041hg38UCSC Ensembl
Innerchr7:100967086..101116322hg19UCSC Ensembl
Innerchr7:100753806..100903042hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38149237
hg19149237
hg18149237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6537n100
Supporting Variantsnssv3655312
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)nsv1030543
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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