A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16931990



Internal ID22054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46973792..46975546hg38UCSC Ensembl
chr3:47015282..47017036hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381755
hg191755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439698
Supporting Variants
Samples
Known GenesCCDC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16931990
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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