A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2154253



Internal ID17734154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50926035..50932545hg38UCSC Ensembl
Innerchr19:51429291..51435801hg19UCSC Ensembl
Innerchr19:56121103..56127613hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386511
hg196511
hg186511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961236
Supporting Variants
SamplesHGDP00456
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)nssv2154253
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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