A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000327



Internal ID20567367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:394185..496793hg38UCSC Ensembl
chr12:503351..605959hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38102609
hg19102609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457928
Supporting Variants
Samples
Known GenesB4GALNT3, CCDC77
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000327
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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