A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454340



Internal ID232442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139021639..139026319hg38UCSC Ensembl
chr5:138357328..138362008hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384681
hg194681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976076
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454340
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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