A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970911



Internal ID18606133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99677869..99735967hg38UCSC Ensembl
Innerchr7:99275492..99333590hg19UCSC Ensembl
Innerchr7:99113428..99171526hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3858099
hg1958099
hg1858099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2470821, nssv2470814, nssv2470820, nssv2470812, nssv2470815, nssv2470816, nssv2470818, nssv2470817, nssv2470819, nssv2470813
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCYP3A5, CYP3A7, CYP3A7-CYP3AP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970911
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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