A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2126937



Internal ID17454957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5274396..5280369hg38UCSC Ensembl
Innerchr19:5274407..5280380hg19UCSC Ensembl
Innerchr19:5225407..5231380hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385974
hg195974
hg185974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962995
Supporting Variants
SamplesHGDP00778
Known GenesPTPRS
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)nssv2126937
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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