A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2353982



Internal ID17425960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36588732..36590400hg38UCSC Ensembl
Innerchr5:36588834..36590502hg19UCSC Ensembl
Innerchr5:36624591..36626259hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381669
hg191669
hg181669
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv980637
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2353982
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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