A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547484



Internal ID321328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30871057..30871057hg38UCSC Ensembl
chr1:31343904..31343904hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901300
Samples
Known GenesSDC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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