A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2377785



Internal ID17836594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140575667..140588768hg38UCSC Ensembl
Innerchr5:139955252..139968353hg19UCSC Ensembl
Innerchr5:139935436..139948537hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3813102
hg1913102
hg1813102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964943
Supporting Variants
SamplesHGDP00998
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)nssv2377785
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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