A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18191233



Internal ID20758273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75049801..75054200hg38UCSC Ensembl
chr14:75516504..75520903hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475759
Supporting Variants
Samples
Known GenesACYP1, MLH3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18191233
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer