A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451177



Internal ID229363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123609304..123610571hg38UCSC Ensembl
chr3:123328151..123329418hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937578
Samples
Known GenesMYLK-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451177
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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