A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974123



Internal ID18609336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114332204..114344403hg38UCSC Ensembl
Innerchr13:115097679..115109878hg19UCSC Ensembl
Innerchr13:114115781..114128098hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3812200
hg1912200
hg1812318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1974148, nssv1974142, nssv1974146, nssv1974149, nssv1974141, nssv1974143, nssv1974145, nssv1974147, nssv1974140, nssv1974144
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)nsv974123
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