A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214165



Internal ID20781205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7863601..7872800hg38UCSC Ensembl
chr5:7863714..7872913hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg389200
hg199200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6381669
Supporting Variants
Samples
Known GenesFASTKD3, MTRR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214165
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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