A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2352201



Internal ID17429316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31847465..31848159hg38UCSC Ensembl
Innerchr5:31847571..31848265hg19UCSC Ensembl
Innerchr5:31883328..31884022hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964828
Supporting Variants
SamplesHGDP00542
Known GenesPDZD2
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)nssv2352201
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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