A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457404



Internal ID235449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138788095..138788160hg38UCSC Ensembl
chr6:139109232..139109297hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970843
Samples
Known GenesCCDC28A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457404
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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