A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214154



Internal ID20781194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78346301..78411300hg38UCSC Ensembl
chr5:77642125..77707124hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3865000
hg1965000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6396887
Supporting Variants
Samples
Known GenesLOC728769, SCAMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214154
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00059


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