A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464280



Internal ID242161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172379578..172427789hg38UCSC Ensembl
chr4:173300729..173348940hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3848212
hg1948212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959206
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464280
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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