A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699483



Internal ID123149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92691929..92778966hg38UCSC Ensembl
chr14:93158274..93245311hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3887038
hg1987038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496394
Supporting Variants
Samples
Known GenesLGMN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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