A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212193



Internal ID20779233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185706709..185710879hg38UCSC Ensembl
chr3:185424497..185428667hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg384171
hg194171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6372060
Supporting Variants
Samples
Known GenesIGF2BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212193
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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