A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019353



Internal ID18761887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76479432..76674181hg38UCSC Ensembl
Innerchr7:76108749..76303498hg19UCSC Ensembl
Innerchr7:75946685..76141434hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38194750
hg19194750
hg18194750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6471n100
Supporting Variantsnssv3656523
Samples
Known GenesDTX2, LOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019353
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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