A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997003



Internal ID20564044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112134240..112143895hg38UCSC Ensembl
chr12:112572044..112581699hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg389656
hg199656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477042
Supporting Variants
Samples
Known GenesTRAFD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997003
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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