A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215017



Internal ID20782057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93558101..93628600hg38UCSC Ensembl
chr5:92893807..92964306hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3870500
hg1970500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399048
Supporting Variants
Samples
Known GenesFAM172A, MIR2277, MIR548AO, NR2F1, NR2F1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215017
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00054


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