A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2338503



Internal ID17400625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:145127581..145128081hg38UCSC Ensembl
Innerchr4:146048733..146049233hg19UCSC Ensembl
Innerchr4:146268183..146268683hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966325
Supporting Variants
SamplesHGDP00521
Known GenesABCE1
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)nssv2338503
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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