A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190124



Internal ID20757164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78019530..78022609hg38UCSC Ensembl
chr13:78593665..78596744hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383080
hg193080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6495135
Supporting Variants
Samples
Known GenesLINC00446
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190124
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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