A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423456



Internal ID202477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160194459..160194740hg38UCSC Ensembl
chr1:160164249..160164530hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891364
Samples
Known GenesCASQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423456
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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