A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979766



Internal ID53891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179746433..179748117hg38UCSC Ensembl
chr5:179173434..179175118hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381685
hg191685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457618
Supporting Variants
Samples
Known GenesMAML1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979766
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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