A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352828



Internal ID22578497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19320034..19320550hg38UCSC Ensembl
chr1:19646528..19647044hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877982
Supporting Variants
Samples
Known GenesPQLC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352828
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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