A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193106



Internal ID20760146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77750093..77832716hg38UCSC Ensembl
chr13:78324228..78406851hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3882624
hg1982624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488354
Supporting Variants
Samples
Known GenesEDNRB-AS1, SLAIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193106
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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