A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2326455



Internal ID17406476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86777901..86779838hg38UCSC Ensembl
Innerchr4:87699054..87700991hg19UCSC Ensembl
Innerchr4:87918078..87920015hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg381938
hg191938
hg181938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967770
Supporting Variants
SamplesHGDP00521
Known GenesPTPN13
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)nssv2326455
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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