A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686305



Internal ID109971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25097825..25099104hg38UCSC Ensembl
chr13:25671963..25673242hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg381280
hg191280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495502
Supporting Variants
Samples
Known GenesPABPC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686305
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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