A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2365149



Internal ID17770258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75300537..75308752hg38UCSC Ensembl
Innerchr5:74596362..74604577hg19UCSC Ensembl
Innerchr5:74632118..74640333hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg388216
hg198216
hg188216
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968211
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)nssv2365149
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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