A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2364845



Internal ID17820289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:72724658..72727148hg38UCSC Ensembl
Innerchr5:72020485..72022975hg19UCSC Ensembl
Innerchr5:72056241..72058731hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382491
hg192491
hg182491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980682
Supporting Variants
SamplesHGDP00927
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)nssv2364845
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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