A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423321



Internal ID202342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62797903..62804387hg38UCSC Ensembl
chr1:63263574..63270058hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386485
hg196485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904176
Samples
Known GenesATG4C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423321
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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