A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939570



Internal ID27102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127746881..127747831hg38UCSC Ensembl
chr3:127465724..127466674hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38951
hg19951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440622
Supporting Variants
Samples
Known GenesMGLL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939570
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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