A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2334754



Internal ID17801419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119456941..119465312hg38UCSC Ensembl
Innerchr4:120378096..120386467hg19UCSC Ensembl
Innerchr4:120597544..120605915hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg388372
hg198372
hg188372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967792
Supporting Variants
SamplesHGDP00778
Known GenesLOC645513
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)nssv2334754
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