A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18010527



Internal ID20577568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59924101..59925300hg38UCSC Ensembl
chr13:60498235..60499434hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494590
Supporting Variants
Samples
Known GenesDIAPH3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18010527
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00026


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