A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029539



Internal ID18772070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76550385..76920029hg38UCSC Ensembl
Innerchr7:76179702..76549346hg19UCSC Ensembl
Innerchr7:76017638..76387282hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38369645
hg19369645
hg18369645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6473n100
Supporting Variantsnssv3656618
Samples
Known GenesLOC100133091, POMZP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029539
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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