A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2368086



Internal ID17818375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:86276944..86301405hg38UCSC Ensembl
Innerchr5:85572762..85597223hg19UCSC Ensembl
Innerchr5:85608518..85632979hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3824462
hg1924462
hg1824462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968960
Supporting Variants
SamplesHGDP00927
Known GenesNBPF22P
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)nssv2368086
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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