A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970582



Internal ID18605804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137720632..137725203hg38UCSC Ensembl
Innerchr7:137405378..137409949hg19UCSC Ensembl
Innerchr7:137055918..137060489hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg384572
hg194572
hg184572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2479347, nssv2479345, nssv2479344, nssv2479346, nssv2479338, nssv2479341, nssv2479343, nssv2479340, nssv2479339, nssv2479342
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDGKI
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970582
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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