A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368449



Internal ID22594118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151359619..151435986hg38UCSC Ensembl
chr1:151332095..151408462hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3876368
hg1976368
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886646
Supporting Variants
Samples
Known GenesPOGZ, PSMB4, SELENBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368449
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00


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