A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964990



Internal ID18600225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180682678..180687221hg38UCSC Ensembl
Innerchr5:180109678..180114221hg19UCSC Ensembl
Innerchr5:180042284..180046827hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384544
hg194544
hg184544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2389623, nssv2388827, nssv2389621, nssv2389627, nssv2389624, nssv2389625, nssv2389622, nssv2389620, nssv2389628, nssv2389626
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)nsv964990
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