A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406659



Internal ID22464529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:5917935..5918181hg38UCSC Ensembl
chr20:5898581..5898827hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937591
Supporting Variants
Samples
Known GenesCHGB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406659
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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