A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2389571



Internal ID17776482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177890593..177931346hg38UCSC Ensembl
Innerchr5:177317594..177358347hg19UCSC Ensembl
Innerchr5:177250200..177290953hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3840754
hg1940754
hg1840754
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968281
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2389571
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer