A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958586



Internal ID22733648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185079280..185079280hg38UCSC Ensembl
chr3:184797068..184797068hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17414258
Samples
Known GenesC3orf70
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958586
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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