A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414258



Internal ID22472128
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 StatusS
Merged Variantsnsv5958586
Supporting Variants
Samples
Known GenesC3orf70
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414258
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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