A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211531



Internal ID20778571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181692501..181733000hg38UCSC Ensembl
chr3:181410289..181450788hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3840500
hg1940500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6363905
Supporting Variants
Samples
Known GenesSOX2, SOX2-OT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211531
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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