A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18133338



Internal ID20700378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69428160..69428670hg38UCSC Ensembl
chr5:68723987..68724497hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408509
Supporting Variants
Samples
Known GenesMARVELD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18133338
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.45233


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