A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18127245



Internal ID20694285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134716650..134719831hg38UCSC Ensembl
chr5:134052340..134055521hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383182
hg193182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398480
Supporting Variants
Samples
Known GenesSEC24A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18127245
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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