A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541714



Internal ID300669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112469661..112469680hg38UCSC Ensembl
chr3:112188508..112188527hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936404
Samples
Known GenesBTLA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541714
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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