A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2384913



Internal ID17462494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168616411..168617016hg38UCSC Ensembl
Innerchr5:168043416..168044021hg19UCSC Ensembl
Innerchr5:167975994..167976599hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38606
hg19606
hg18606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968269
Supporting Variants
SamplesHGDP00778
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)nssv2384913
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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