A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457216



Internal ID235266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142979023..142981418hg38UCSC Ensembl
chr6:143300160..143302555hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg382396
hg192396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970351
Samples
Known GenesLOC100507489
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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