A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973970



Internal ID22748905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77460457..77460457hg38UCSC Ensembl
chr14:77926800..77926800hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379811
Samples
Known GenesAHSA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973970
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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