A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2153875



Internal ID17771021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49275065..49284171hg38UCSC Ensembl
Innerchr19:49778322..49787428hg19UCSC Ensembl
Innerchr19:54470134..54479240hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg389107
hg199107
hg189107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978833
Supporting Variants
SamplesHGDP00542
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)nssv2153875
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