A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032495



Internal ID18775029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76524019..76648580hg38UCSC Ensembl
Innerchr7:76153336..76277897hg19UCSC Ensembl
Innerchr7:75991272..76115833hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38124562
hg19124562
hg18124562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6480n100
Supporting Variantsnssv3755348
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)nsv1032495
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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