A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423870



Internal ID202878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52081225..52081289hg38UCSC Ensembl
chr1:52546897..52546961hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902765
Samples
Known GenesBTF3L4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423870
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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