A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425543



Internal ID204505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151071745..151084706hg38UCSC Ensembl
chr1:151044221..151057182hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3812962
hg1912962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890254
Samples
Known GenesGABPB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425543
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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