A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457328



Internal ID235375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181241639..181242098hg38UCSC Ensembl
chr5:180668639..180669098hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977889
Samples
Known GenesGNB2L1, SNORD96A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457328
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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