A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5998191



Internal ID21907534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8215954..8443598hg38UCSC Ensembl
chr4:8217681..8445325hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38227645
hg19227645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17552753
Samples
Known GenesACOX3, HTRA3, SH3TC1, TRMT44
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5998191
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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