A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732644



Internal ID156310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45886625..45896625hg38UCSC Ensembl
chr20:44515264..44525264hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146861
Supporting Variants
Samples
Known GenesCTSA, NEURL2, SPATA25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732644
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000804


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