A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18008394



Internal ID20575434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37008490..37013569hg38UCSC Ensembl
chr13:37582627..37587706hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg385080
hg195080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478446
Supporting Variants
Samples
Known GenesEXOSC8, SUPT20H
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18008394
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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