A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453314



Internal ID22511188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20228291..20236810hg38UCSC Ensembl
chr13:20802430..20810949hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg388520
hg198520
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852767
Supporting Variants
Samples
Known GenesGJB6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453314
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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