A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214155



Internal ID20781195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78359601..78360800hg38UCSC Ensembl
chr5:77655425..77656624hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398244
Supporting Variants
Samples
Known GenesLOC728769, SCAMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214155
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00024


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