A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18008389



Internal ID20575429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36860358..36861736hg38UCSC Ensembl
chr13:37434495..37435873hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476045
Supporting Variants
Samples
Known GenesSMAD9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18008389
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00094


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