A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421321



Internal ID200399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36352940..36354075hg38UCSC Ensembl
chr1:36818541..36819676hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381136
hg191136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901435
Samples
Known GenesSTK40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421321
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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