A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005689



Internal ID20572729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87539437..87540998hg38UCSC Ensembl
chr12:87933214..87934775hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg381562
hg191562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474689
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005689
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00051


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