A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546540



Internal ID320479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8539860..8539910hg38UCSC Ensembl
chr3:8581546..8581596hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16929071
Samples
Known GenesLMCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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