A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388389



Internal ID22446259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77904551..77908369hg38UCSC Ensembl
chr13:78478686..78482504hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383819
hg193819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941141
Supporting Variants
Samples
Known GenesEDNRB, EDNRB-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388389
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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