A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2148036



Internal ID17730886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39661302..39678250hg38UCSC Ensembl
Innerchr19:40151942..40168890hg19UCSC Ensembl
Innerchr19:44843782..44860730hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3816949
hg1916949
hg1816949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963047
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)nssv2148036
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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