A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414032



Internal ID193319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153975905..153976692hg38UCSC Ensembl
chr1:153948381..153949168hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38788
hg19788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890644
Samples
Known GenesJTB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414032
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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