A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2150376



Internal ID17492243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41815219..41835541hg38UCSC Ensembl
Innerchr19:42319253..42339596hg19UCSC Ensembl
Innerchr19:47011093..47031436hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3820323
hg1920344
hg1820344
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960847
Supporting Variants
SamplesHGDP00998
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)nssv2150376
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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