A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511367



Internal ID287950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74523117..74523572hg38UCSC Ensembl
chr14:74989820..74990275hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699304
Samples
Known GenesLTBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511367
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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