A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054229



Internal ID103982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14576502..14576568hg38UCSC Ensembl
chr12:14729436..14729502hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510639
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054229
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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