A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424540



Internal ID203526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172208820..172210787hg38UCSC Ensembl
chr1:172177960..172179927hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg381968
hg191968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891941
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424540
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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