A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214175



Internal ID20781215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79066001..79072200hg38UCSC Ensembl
chr5:78361824..78368023hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403051
Supporting Variants
Samples
Known GenesBHMT2, DMGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214175
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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