A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6413290



Internal ID21070843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78386801..78395100hg38UCSC Ensembl
chr5:77682625..77690924hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg388300
hg198300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214157
Samples
Known GenesSCAMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6413290
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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