A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2353085



Internal ID17843263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34215545..34257813hg38UCSC Ensembl
Innerchr5:34215650..34257918hg19UCSC Ensembl
Innerchr5:34251407..34293675hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3842269
hg1942269
hg1842269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968164
Supporting Variants
SamplesHGDP01029
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)nssv2353085
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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