A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201519



Internal ID21340321
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3937794
Supporting Variants
SamplesHG002
Known GenesARSB
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201519
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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