A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053216



Internal ID103333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12745034..12746224hg38UCSC Ensembl
chr12:12897968..12899158hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381191
hg191191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509486
Supporting Variants
Samples
Known GenesAPOLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003903


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