A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725762



Internal ID149428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56171714..56181575hg38UCSC Ensembl
chr19:56683083..56692944hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg389862
hg199862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524078
Supporting Variants
Samples
Known GenesGALP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725762
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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