A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019630



Internal ID19108848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76811864..77109291hg38UCSC Ensembl
Innerchr7:76441181..76738608hg19UCSC Ensembl
Innerchr7:76279117..76576544hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38297428
hg19297428
hg18297428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6501n100
Supporting Variantsnssv3657052
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)nsv1019630
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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