A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034841



Internal ID18777374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514308..76936433hg38UCSC Ensembl
Innerchr7:76143625..76565750hg19UCSC Ensembl
Innerchr7:75981561..76403686hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38422126
hg19422126
hg18422126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6473n100
Supporting Variantsnssv3656575, nssv3656574, nssv3656572, nssv3656569, nssv3656570, nssv3656571, nssv3656573, nssv3656576
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)nsv1034841
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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