A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254401



Internal ID22059011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100084100..100084100hg38UCSC Ensembl
chr3:99802944..99802944hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852206
Samples
Known GenesCMSS1, FILIP1L
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254401
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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