A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929816



Internal ID22705075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48641240..48643467hg38UCSC Ensembl
chr19:49144497..49146724hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382228
hg192228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405557
Samples
Known GenesCA11, SEC1P
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929816
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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