A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18164235



Internal ID20731275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120417584..120418191hg38UCSC Ensembl
chr8:121429824..121430431hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6434580
Supporting Variants
Samples
Known GenesMRPL13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18164235
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00035


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