A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966859



Internal ID18602088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:92111769..92114132hg38UCSC Ensembl
Innerchr7:91741083..91743446hg19UCSC Ensembl
Innerchr7:91579019..91581382hg18UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg382364
hg192364
hg182364
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2468033, nssv2468829, nssv2468034, nssv2468035, nssv2468830, nssv2468032, nssv2468831, nssv2468031, nssv2468828, nssv2468832
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCYP51A1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966859
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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