A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976099



Internal ID51468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139275347..139275931hg38UCSC Ensembl
chr5:138611036..138611620hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455624
Supporting Variants
Samples
Known GenesMATR3, SNHG4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976099
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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