A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444609



Internal ID222980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191313680..191333371hg38UCSC Ensembl
chr2:192178406..192198097hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3819692
hg1919692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927630
Samples
Known GenesMYO1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444609
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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