A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724001



Internal ID147667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49446874..49481000hg38UCSC Ensembl
chr19:49950131..49984257hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3834127
hg1934127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146971
Supporting Variants
Samples
Known GenesALDH16A1, FLT3LG, PIH1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724001
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000628


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