A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981931



Internal ID18617127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:41510885..41513411hg38UCSC Ensembl
Innerchr8:41368404..41370930hg19UCSC Ensembl
Innerchr8:41487561..41490087hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382527
hg192527
hg182527
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2500740, nssv2500741, nssv2500748, nssv2500743, nssv2500742, nssv2500746, nssv2500747, nssv2500739, nssv2500745, nssv2500744
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGOLGA7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981931
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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