A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981450



Internal ID18616647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:35121070..35191521hg38UCSC Ensembl
Innerchr7:35160682..35231133hg19UCSC Ensembl
Innerchr7:35127207..35197658hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3870452
hg1970452
hg1870452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2443373, nssv2443367, nssv2443374, nssv2443366, nssv2443365, nssv2443369, nssv2443372, nssv2443368, nssv2443371, nssv2443370
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDPY19L2P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981450
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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