A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458927



Internal ID236947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136763994..136767961hg38UCSC Ensembl
chr6:137085132..137089099hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383968
hg193968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969218
Samples
Known GenesMAP3K5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458927
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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