A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699304



Internal ID122970
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 StatusS
Merged Variantsnsv5511367
Supporting Variants
Samples
Known GenesLTBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699304
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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