A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419945



Internal ID22477815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148119507..148126772hg38UCSC Ensembl
chr6:148440643..148447908hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg387266
hg197266
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889053
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419945
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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