A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2414295



Internal ID17842733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:63576522..63577140hg38UCSC Ensembl
Innerchr6:64286427..64287045hg19UCSC Ensembl
Innerchr6:64344386..64345004hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38619
hg19619
hg18619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965739
Supporting Variants
SamplesHGDP00998
Known GenesPTP4A1
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)nssv2414295
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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