A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2133737



Internal ID17798101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12555836..12563904hg38UCSC Ensembl
Innerchr19:12666650..12674718hg19UCSC Ensembl
Innerchr19:12527650..12535718hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388069
hg198069
hg188069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960795
Supporting Variants
SamplesHGDP00778
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)nssv2133737
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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