A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981945



Internal ID18617141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:60387660..60388859hg38UCSC Ensembl
Innerchr8:61300219..61301418hg19UCSC Ensembl
Innerchr8:61462773..61463972hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381200
hg191200
hg181200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2504965, nssv2504968, nssv2504970, nssv2504964, nssv2504967, nssv2504969, nssv2504963, nssv2504962, nssv2504966, nssv2504971
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)nsv981945
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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