A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971326



Internal ID18606546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:79570574..79572198hg38UCSC Ensembl
Innerchr8:80482809..80484433hg19UCSC Ensembl
Innerchr8:80645364..80646988hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381625
hg191625
hg181625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2509449, nssv2509441, nssv2509448, nssv2509447, nssv2509442, nssv2509440, nssv2509444, nssv2509445, nssv2509443, nssv2509446
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)nsv971326
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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