A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974046



Internal ID50074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138271341..138272037hg38UCSC Ensembl
chr5:137607030..137607726hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466136
Supporting Variants
Samples
Known GenesGFRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974046
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.059669


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