A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054901



Internal ID104435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2797161..3003624hg38UCSC Ensembl
chr12:2906327..3112790hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38206464
hg19206464
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143643
Supporting Variants
Samples
Known GenesFKBP4, FOXM1, ITFG2, LOC100507424, NRIP2, RHNO1, TEAD4, TULP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054901
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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