A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2352102



Internal ID17517614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31839218..31840888hg38UCSC Ensembl
Innerchr5:31839324..31840994hg19UCSC Ensembl
Innerchr5:31875081..31876751hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381671
hg191671
hg181671
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980628
Supporting Variants
SamplesHGDP01284
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)nssv2352102
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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