A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2374442



Internal ID17739886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118966279..118982248hg38UCSC Ensembl
Innerchr5:118301974..118317943hg19UCSC Ensembl
Innerchr5:118329873..118345842hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3815970
hg1915970
hg1815970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964930
Supporting Variants
SamplesHGDP00456
Known GenesDTWD2, MIR1244-1, MIR1244-2, MIR1244-3
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)nssv2374442
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