A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426781



Internal ID205700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36352004..36352295hg38UCSC Ensembl
chr1:36817605..36817896hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901434
Samples
Known GenesSTK40
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426781
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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