A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054230



Internal ID103983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14577141..14580313hg38UCSC Ensembl
chr12:14730075..14733247hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg383173
hg193173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513231
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054230
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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