A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996117



Internal ID20563157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106442672..106442774hg38UCSC Ensembl
chr12:106836450..106836552hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6461483
Supporting Variants
Samples
Known GenesPOLR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996117
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00717


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