A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2150278



Internal ID17805523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41806463..41808062hg38UCSC Ensembl
Innerchr19:42310504..42312100hg19UCSC Ensembl
Innerchr19:47002344..47003940hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381600
hg191597
hg181597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960846
Supporting Variants
SamplesHGDP00778
Known GenesCEACAM3
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)nssv2150278
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