A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981975



Internal ID18617171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:116727244..116729023hg38UCSC Ensembl
Innerchr8:117739483..117741262hg19UCSC Ensembl
Innerchr8:117808664..117810443hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381780
hg191780
hg181780
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2518157, nssv2518151, nssv2518153, nssv2518152, nssv2518148, nssv2518154, nssv2518149, nssv2518156, nssv2518155, nssv2518150
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF3H
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981975
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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