A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996843



Internal ID20563883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11339410..11418066hg38UCSC Ensembl
chr12:11492344..11571000hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3878657
hg1978657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458876
Supporting Variants
Samples
Known GenesPRB1, PRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996843
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00098


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