A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981940



Internal ID18617136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56050015..56051224hg38UCSC Ensembl
Innerchr8:56962574..56963783hg19UCSC Ensembl
Innerchr8:57125128..57126337hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381210
hg191210
hg181210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2503565, nssv2503566, nssv2503567, nssv2503559, nssv2503558, nssv2503560, nssv2503563, nssv2503561, nssv2503562, nssv2503564
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)nsv981940
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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