A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2144809



Internal ID17864642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:33359305..33363812hg38UCSC Ensembl
Innerchr19:33850211..33854718hg19UCSC Ensembl
Innerchr19:38542051..38546558hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg384508
hg194508
hg184508
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960825
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv2144809
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