A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440701



Internal ID219202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172695949..172697800hg38UCSC Ensembl
chr3:172413739..172415590hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381852
hg191852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941385
Samples
Known GenesNCEH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440701
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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