A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686322



Internal ID109988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25266581..25266632hg38UCSC Ensembl
chr13:25840719..25840770hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433084
Supporting Variants
Samples
Known GenesMTMR6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686322
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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