A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021429



Internal ID20588469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73857179..73861177hg38UCSC Ensembl
chr14:74323882..74327880hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383999
hg193999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491564
Supporting Variants
Samples
Known GenesPTGR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021429
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00249


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