A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543134



Internal ID317458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33534637..33534637hg38UCSC Ensembl
chr1:34000237..34000237hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900555
Samples
Known GenesCSMD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543134
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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