A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942680



Internal ID21362749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1317043..1317043hg38UCSC Ensembl
chr4:1310831..1310831hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15190567
SamplesHG002
Known GenesMAEA
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942680
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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