A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971305



Internal ID18606525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47117091..47132237hg38UCSC Ensembl
Innerchr8:48028714..48043860hg19UCSC Ensembl
Innerchr8:48147879..48163025hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3815147
hg1915147
hg1815147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2501778, nssv2501780, nssv2501773, nssv2501774, nssv2501777, nssv2501782, nssv2501775, nssv2501776, nssv2501781, nssv2501779
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)nsv971305
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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