A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023393



Internal ID19112610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101261052..101458765hg38UCSC Ensembl
Innerchr7:100904333..101102046hg19UCSC Ensembl
Innerchr7:100691053..100888766hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38197714
hg19197714
hg18197714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655300
Samples
Known GenesCOL26A1, RABL5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023393
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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