A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970558



Internal ID18259094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99760896..99792284hg38UCSC Ensembl
Innerchr7:99358519..99389907hg19UCSC Ensembl
Innerchr7:99196455..99227843hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3831389
hg1931389
hg1831389
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2471270, nssv2471266, nssv2471272, nssv2471268, nssv2471269, nssv2471275, nssv2471271, nssv2471274, nssv2471273, nssv2471267
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCYP3A4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970558
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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