A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971671



Internal ID18606888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:80263150..80270533hg38UCSC Ensembl
Innerchr8:81175385..81182768hg19UCSC Ensembl
Innerchr8:81337940..81345323hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg387384
hg197384
hg187384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2509543, nssv2509538, nssv2509537, nssv2509544, nssv2509545, nssv2509541, nssv2509546, nssv2509540, nssv2509539, nssv2509542
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)nsv971671
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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