A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125313



Internal ID20692353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13794482..13798830hg38UCSC Ensembl
chr5:13794591..13798939hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg384349
hg194349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6394808
Supporting Variants
Samples
Known GenesDNAH5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125313
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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