A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461017



Internal ID238982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136896594..136896667hg38UCSC Ensembl
chr6:137217732..137217805hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969227
Samples
Known GenesPEX7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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