A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978624



Internal ID18613827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31722780..31725889hg38UCSC Ensembl
Innerchr18:29302743..29305852hg19UCSC Ensembl
Innerchr18:27556741..27559850hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg383110
hg193110
hg183110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2120567, nssv2120568, nssv2120569, nssv2120570, nssv2120566, nssv2120565, nssv2120573, nssv2120574, nssv2120571, nssv2120572
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)nsv978624
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer