A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939579



Internal ID27110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127820113..127824676hg38UCSC Ensembl
chr3:127538956..127543519hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384564
hg194564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450867
Supporting Variants
Samples
Known GenesMGLL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939579
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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