A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444637



Internal ID223008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165780622..165783379hg38UCSC Ensembl
chr2:166637132..166639889hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382758
hg192758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921771
Samples
Known GenesGALNT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444637
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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