A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17349914



Internal ID22573449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233019218..233019592hg38UCSC Ensembl
chr1:233154964..233155338hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882771
Supporting Variants
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17349914
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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