A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534250



Internal ID310073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74573222..74573273hg38UCSC Ensembl
chr14:75039925..75039976hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699309
Samples
Known GenesLTBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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