A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2351409



Internal ID17864350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:28926610..28928964hg38UCSC Ensembl
Innerchr5:28926717..28929071hg19UCSC Ensembl
Innerchr5:28962474..28964828hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382355
hg192355
hg182355
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964826
Supporting Variants
SamplesHGDP01284
Known GenesLSP1P3
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)nssv2351409
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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