A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365410



Internal ID22591079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151451167..151453539hg38UCSC Ensembl
chr1:151423643..151426015hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382373
hg192373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881470
Supporting Variants
Samples
Known GenesPOGZ
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365410
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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