A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053149



Internal ID103287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12271720..12272050hg38UCSC Ensembl
chr12:12424654..12424984hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143054
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053149
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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