A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054915



Internal ID104445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2911664..2915242hg38UCSC Ensembl
chr12:3020830..3024408hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383579
hg193579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504405
Supporting Variants
Samples
Known GenesTULP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054915
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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