A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2386573



Internal ID17878537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:174914012..174931792hg38UCSC Ensembl
Innerchr5:174341015..174358795hg19UCSC Ensembl
Innerchr5:174273621..174291401hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3817781
hg1917781
hg1817781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964971
Supporting Variants
SamplesHGDP01307
Known GenesFLJ16171
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2386573
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