A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029119



Internal ID19118338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76799301..77083484hg38UCSC Ensembl
Innerchr7:76428618..76712801hg19UCSC Ensembl
Innerchr7:76266554..76550737hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38284184
hg19284184
hg18284184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6501n100
Supporting Variantsnssv3755362
Samples
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029119
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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