A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022820



Internal ID18765354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76479432..77136114hg38UCSC Ensembl
Innerchr7:76108749..76765431hg19UCSC Ensembl
Innerchr7:75946685..76603367hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38656683
hg19656683
hg18656683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6475n100
Supporting Variantsnssv3656530
Samples
Known GenesCCDC146, DTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100132832, 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)nsv1022820
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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