A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419560



Internal ID198689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50063029..50076226hg38UCSC Ensembl
chr1:50528701..50541898hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3813198
hg1913198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904972
Samples
Known GenesELAVL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419560
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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