A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18012962



Internal ID20580002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77944889..77945379hg38UCSC Ensembl
chr13:78519024..78519514hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38491
hg19491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483291
Supporting Variants
Samples
Known GenesEDNRB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18012962
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001


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