A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974028



Internal ID50062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138028983..138032411hg38UCSC Ensembl
chr5:137364672..137368100hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg383429
hg193429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461369
Supporting Variants
Samples
Known GenesFAM13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974028
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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