A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032885



Internal ID18775419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76527212..76940323hg38UCSC Ensembl
Innerchr7:76156529..76569640hg19UCSC Ensembl
Innerchr7:75994465..76407576hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38413112
hg19413112
hg18413112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6473n100
Supporting Variantsnssv3656611
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)nsv1032885
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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