A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974095



Internal ID18609308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60275353..60277872hg38UCSC Ensembl
Innerchr13:60849487..60852006hg19UCSC Ensembl
Innerchr13:59747488..59750007hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg382520
hg192520
hg182520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1966075, nssv1966077, nssv1966076, nssv1966081, nssv1966080, nssv1966078, nssv1966079, nssv1966083, nssv1966084, nssv1966082
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)nsv974095
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