A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145046



Internal ID344251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11382000..11430000hg38UCSC Ensembl
chr19:11492676..11540820hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3848001
hg1948145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721404
Samples
Known GenesCCDC151, EPOR, RGL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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