A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971645



Internal ID18606862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46971119..46976905hg38UCSC Ensembl
Innerchr8:47882742..47888528hg19UCSC Ensembl
Innerchr8:48001907..48007693hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg385787
hg195787
hg185787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2502269, nssv2502267, nssv2502268, nssv2502271, nssv2502265, nssv2502270, nssv2502272, nssv2502273, nssv2502266, nssv2502274
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971645
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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