A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355622



Internal ID22581291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19319936..19320751hg38UCSC Ensembl
chr1:19646430..19647245hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873721
Supporting Variants
Samples
Known GenesPQLC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355622
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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