A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3930114



Internal ID21350183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55897015..55897015hg38UCSC Ensembl
chr5:55192843..55192843hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15202187
SamplesHG002
Known GenesIL31RA
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3930114
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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