A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2359294



Internal ID17748987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65732505..65734845hg38UCSC Ensembl
Innerchr5:65028332..65030672hg19UCSC Ensembl
Innerchr5:65064088..65066428hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg382341
hg192341
hg182341
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980652
Supporting Variants
SamplesHGDP00521
Known GenesNLN
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)nssv2359294
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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