A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000426



Internal ID20567466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45842005..45843286hg38UCSC Ensembl
chr12:46235788..46237069hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381282
hg191282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475525
Supporting Variants
Samples
Known GenesARID2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000426
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00022


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