A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3937794



Internal ID21357864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78984900..78984900hg38UCSC Ensembl
chr5:78280723..78280723hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15201519
SamplesHG002
Known GenesARSB
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3937794
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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