A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722999



Internal ID146665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35209059..35249030hg38UCSC Ensembl
chr19:35699962..35739933hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3839972
hg1939972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528951
Supporting Variants
Samples
Known GenesFAM187B, LSR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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