A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732795



Internal ID156461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48808000..48823000hg38UCSC Ensembl
chr20:47424537..47439537hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146864
Supporting Variants
Samples
Known GenesPREX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732795
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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