A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555690



Internal ID328841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149094481..149094507hg38UCSC Ensembl
chr3:148812268..148812294hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940809
Samples
Known GenesHLTF-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555690
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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