A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996981



Internal ID20564022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111651150..111651233hg38UCSC Ensembl
chr12:112088954..112089037hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488939
Supporting Variants
Samples
Known GenesBRAP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996981
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01401


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