A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212505



Internal ID20779545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119180217..119255851hg38UCSC Ensembl
chr5:118515912..118591546hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3875635
hg1975635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414452
Supporting Variants
Samples
Known GenesDMXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212505
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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