A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548030



Internal ID321816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100077761..100077765hg38UCSC Ensembl
chr3:99796605..99796609hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734897
Samples
Known GenesCMSS1, FILIP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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