A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016083



Internal ID18758618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76568101..76801533hg38UCSC Ensembl
Innerchr7:76197418..76430850hg19UCSC Ensembl
Innerchr7:76035354..76268786hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38233433
hg19233433
hg18233433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6478n100
Supporting Variantsnssv3656663, nssv3656664
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)nsv1016083
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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