A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968283



Internal ID18256825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178007666..178039501hg38UCSC Ensembl
Innerchr5:177434667..177466502hg19UCSC Ensembl
Innerchr5:177367273..177399108hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3831836
hg1931836
hg1831836
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2390441, nssv2390448, nssv2390445, nssv2390447, nssv2390442, nssv2390449, nssv2390444, nssv2390450, nssv2390443, nssv2390446
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFAM153C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968283
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