A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953377



Internal ID22728666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123080892..123080892hg38UCSC Ensembl
chr3:122799739..122799739hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392752
Samples
Known GenesPDIA5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953377
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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