A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019789



Internal ID18762324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76550385..76927895hg38UCSC Ensembl
Innerchr7:76179702..76557212hg19UCSC Ensembl
Innerchr7:76017638..76395148hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38377511
hg19377511
hg18377511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6473n100
Supporting Variantsnssv3656621, nssv3656619, nssv3656620, nssv3656622
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)nsv1019789
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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