A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471243



Internal ID248985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33287902..33322738hg38UCSC Ensembl
chr5:33288008..33322844hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3834837
hg1934837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964693
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471243
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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