A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933503



Internal ID22708816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44969848..44970990hg38UCSC Ensembl
chr19:45473105..45474247hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381143
hg191143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393857
Samples
Known GenesCLPTM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933503
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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