A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2364115



Internal ID17752305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:74768651..74769458hg38UCSC Ensembl
Innerchr5:74064476..74065283hg19UCSC Ensembl
Innerchr5:74100232..74101039hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38808
hg19808
hg18808
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968947
Supporting Variants
SamplesHGDP00521
Known GenesNSA2
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)nssv2364115
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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