A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470480



Internal ID248239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144513750..144513861hg38UCSC Ensembl
chr5:143893313..143893424hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975494
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470480
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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