A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208057



Internal ID20775097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178444301..178450400hg38UCSC Ensembl
chr2:179309028..179315127hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336975
Supporting Variants
Samples
Known GenesMIR548N, PRKRA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208057
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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