A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2353383



Internal ID17431333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:37080734..37107021hg38UCSC Ensembl
Innerchr5:37080836..37107123hg19UCSC Ensembl
Innerchr5:37116593..37142880hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3826288
hg1926288
hg1826288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964844
Supporting Variants
SamplesHGDP00665
Known GenesC5orf42
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)nssv2353383
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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