A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2335312



Internal ID17774072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123745674..123746261hg38UCSC Ensembl
Innerchr4:124666829..124667416hg19UCSC Ensembl
Innerchr4:124886279..124886866hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38588
hg19588
hg18588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964094
Supporting Variants
SamplesHGDP00542
Known GenesLINC01091
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)nssv2335312
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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