A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031299



Internal ID18773833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514308..76972256hg38UCSC Ensembl
Innerchr7:76143625..76601573hg19UCSC Ensembl
Innerchr7:75981561..76439509hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38457949
hg19457949
hg18457949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6476n100
Supporting Variantsnssv3656581
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)nsv1031299
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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