A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983603



Internal ID18618796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75237849..75240294hg38UCSC Ensembl
Innerchr13:75811985..75814430hg19UCSC Ensembl
Innerchr13:74709986..74712431hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg382446
hg192446
hg182446
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1969198, nssv1969199, nssv1969197, nssv1969195, nssv1969201, nssv1969202, nssv1969200, nssv1969193, nssv1969194, nssv1969196
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCTAGE11P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983603
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