A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439698



Internal ID218231
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 StatusM
Merged Variants
Supporting Variantsnssv16931990
Samples
Known GenesCCDC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439698
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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