A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981972



Internal ID18617168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:102923424..102925014hg38UCSC Ensembl
Innerchr8:103935652..103937242hg19UCSC Ensembl
Innerchr8:104004828..104006418hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381591
hg191591
hg181591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2515307, nssv2515310, nssv2515304, nssv2515306, nssv2515312, nssv2515311, nssv2515313, nssv2515309, nssv2515308, nssv2515305
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)nsv981972
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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