A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453882



Internal ID231992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225557728..225561104hg38UCSC Ensembl
chr1:225745430..225748806hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg383377
hg193377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897397
Samples
Known GenesENAH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453882
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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