A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2387666



Internal ID17427253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177260266..177265277hg38UCSC Ensembl
Innerchr5:176687267..176692278hg19UCSC Ensembl
Innerchr5:176619873..176624884hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385012
hg195012
hg185012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980763
Supporting Variants
SamplesHGDP00542
Known GenesNSD1
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)nssv2387666
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