A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694516



Internal ID118182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95594946..95594997hg38UCSC Ensembl
chr13:96247200..96247251hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431089
Supporting Variants
Samples
Known GenesDZIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694516
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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