A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6046431



Internal ID21955675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17563225..17563381hg38UCSC Ensembl
chr19:17674034..17674190hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17629451
Samples
Known GenesCOLGALT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6046431
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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