A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971691



Internal ID18606908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:103766831..103768932hg38UCSC Ensembl
Innerchr8:104779059..104781160hg19UCSC Ensembl
Innerchr8:104848235..104850336hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382102
hg192102
hg182102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2516145, nssv2516148, nssv2516149, nssv2516146, nssv2516147, nssv2516141, nssv2516142, nssv2516144, nssv2516140, nssv2516143
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRIMS2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971691
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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