A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1918005



Internal ID17748020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:15435736..15445450hg38UCSC Ensembl
Innerchr12:15588670..15598384hg19UCSC Ensembl
Innerchr12:15479937..15489651hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg389715
hg199715
hg189715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975455
Supporting Variants
SamplesHGDP00521
Known GenesPTPRO
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)nssv1918005
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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