A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2151077



Internal ID17419457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42699097..43294556hg38UCSC Ensembl
Innerchr19:43203249..43798708hg19UCSC Ensembl
Innerchr19:47895089..48490548hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38595460
hg19595460
hg18595460
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963056
Supporting Variants
SamplesHGDP00542
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9
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)nssv2151077
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