A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2350732



Internal ID17814305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:24746670..24765411hg38UCSC Ensembl
Innerchr5:24746779..24765520hg19UCSC Ensembl
Innerchr5:24782536..24801277hg18UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3818742
hg1918742
hg1818742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964822
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)nssv2350732
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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