A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2159009



Internal ID17755906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55202018..55210379hg38UCSC Ensembl
Innerchr19:55713386..55721747hg19UCSC Ensembl
Innerchr19:60405198..60413559hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388362
hg198362
hg188362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960874
Supporting Variants
SamplesHGDP00521
Known GenesPTPRH
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)nssv2159009
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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