A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2380288



Internal ID17742740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141184495..141185095hg38UCSC Ensembl
Innerchr5:140564070..140564670hg19UCSC Ensembl
Innerchr5:140544254..140544854hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38601
hg19601
hg18601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964957
Supporting Variants
SamplesHGDP00456
Known GenesPCDHB16
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)nssv2380288
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