A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214881



Internal ID20781921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69411901..69418200hg38UCSC Ensembl
chr5:68707728..68714027hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403312
Supporting Variants
Samples
Known GenesMARVELD2, RAD17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214881
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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