A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018456



Internal ID18760989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76479432..76875787hg38UCSC Ensembl
Innerchr7:76108749..76505104hg19UCSC Ensembl
Innerchr7:75946685..76343040hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38396356
hg19396356
hg18396356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6473n100
Supporting Variantsnssv3656525
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)nsv1018456
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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