A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017192



Internal ID18759727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76479432..76977978hg38UCSC Ensembl
Innerchr7:76108749..76607295hg19UCSC Ensembl
Innerchr7:75946685..76445231hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38498547
hg19498547
hg18498547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6476n100
Supporting Variantsnssv3656528, nssv3656527, nssv3656529
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)nsv1017192
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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