A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215004



Internal ID20782044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91379901..91381300hg38UCSC Ensembl
chr5:90675718..90677117hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411850
Supporting Variants
Samples
Known GenesARRDC3, ARRDC3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215004
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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