A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214176



Internal ID20781216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79079295..79094264hg38UCSC Ensembl
chr5:78375118..78390087hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3814970
hg1914970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408484
Supporting Variants
Samples
Known GenesBHMT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214176
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00114


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