A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212178



Internal ID20779218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185105420..185110812hg38UCSC Ensembl
chr3:184823208..184828600hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg385393
hg195393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6366971
Supporting Variants
Samples
Known GenesC3orf70
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212178
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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