A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2319399



Internal ID17768495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:61773465..61775788hg38UCSC Ensembl
Innerchr4:62639183..62641506hg19UCSC Ensembl
Innerchr4:62321778..62324101hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg382324
hg192324
hg182324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980206
Supporting Variants
SamplesHGDP00542
Known GenesLPHN3
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)nssv2319399
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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