A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514480



Internal ID290977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63714707..64278418hg38UCSC Ensembl
chr18:61381941..61945653hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38563712
hg19563713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718837
Samples
Known GenesHMSD, LINC00305, LOC284294, LOC400654, SERPINB10, SERPINB11, SERPINB2, SERPINB7, SERPINB8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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