A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215005



Internal ID20782045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91380201..91383900hg38UCSC Ensembl
chr5:90676018..90679717hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409739
Supporting Variants
Samples
Known GenesARRDC3, ARRDC3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215005
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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