A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242787



Internal ID22047397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10779527..10779527hg38UCSC Ensembl
chr19:10890203..10890203hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849597
Samples
Known GenesDNM2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242787
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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