A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020553



Internal ID20587593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68160240..68161587hg38UCSC Ensembl
chr14:68626957..68628304hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381348
hg191348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6493564
Supporting Variants
Samples
Known GenesRAD51B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020553
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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