A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000603



Internal ID20567643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43451486..43451931hg38UCSC Ensembl
chr12:43845289..43845734hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471515
Supporting Variants
Samples
Known GenesADAMTS20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000603
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00114


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