A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971646



Internal ID18606863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47089388..47091163hg38UCSC Ensembl
Innerchr8:48001011..48002786hg19UCSC Ensembl
Innerchr8:48120176..48121951hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg381776
hg191776
hg181776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2502364, nssv2502370, nssv2502366, nssv2502367, nssv2502371, nssv2502368, nssv2502369, nssv2502363, nssv2502365, nssv2502362
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)nsv971646
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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