A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421243



Internal ID200326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43979223..43979315hg38UCSC Ensembl
chr1:44444895..44444987hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902543
Samples
Known GenesB4GALT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421243
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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