A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694480



Internal ID118146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95068726..95068777hg38UCSC Ensembl
chr13:95720980..95721031hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431552
Supporting Variants
Samples
Known GenesABCC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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