A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450941



Internal ID229134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178697801..178724607hg38UCSC Ensembl
chr3:178415589..178442395hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3826807
hg1926807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942963
Samples
Known GenesKCNMB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450941
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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