A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960754



Internal ID22735721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:145973479..145973479hg38UCSC Ensembl
chr2:146731047..146731047hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401166
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960754
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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