A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2150575



Internal ID17859536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41727233..41727733hg38UCSC Ensembl
Innerchr19:42231153..42231653hg19UCSC Ensembl
Innerchr19:46922993..46923493hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978821
Supporting Variants
SamplesHGDP01284
Known GenesCEACAM5
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)nssv2150575
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