A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457344



Internal ID235391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53701391..53701454hg38UCSC Ensembl
chr6:53566189..53566252hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982600
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457344
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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