A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456329



Internal ID234399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129797808..129803253hg38UCSC Ensembl
chr6:130118953..130124398hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg385446
hg195446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969406
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456329
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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