A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446065



Internal ID224395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188054695..188075457hg38UCSC Ensembl
chr1:188023826..188044588hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3820763
hg1920763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893718
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446065
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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