A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723799



Internal ID147465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47744874..47957000hg38UCSC Ensembl
chr19:48248131..48460257hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38212127
hg19212127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146370
Supporting Variants
Samples
Known GenesCRX, GLTSCR2, SEPW1, SNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNORD23, SULT2A1, TPRX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723799
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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