A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033106



Internal ID18775640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76506401..76801533hg38UCSC Ensembl
Innerchr7:76135718..76430850hg19UCSC Ensembl
Innerchr7:75973654..76268786hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38295133
hg19295133
hg18295133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6478n100
Supporting Variantsnssv3656534
Samples
Known GenesLOC100133091, 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)nsv1033106
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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