A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2353885



Internal ID17425712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36587109..36588732hg38UCSC Ensembl
Innerchr5:36587211..36588834hg19UCSC Ensembl
Innerchr5:36622968..36624591hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381624
hg191624
hg181624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968166
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv2353885
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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