A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3943131



Internal ID21363200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142596352..142596352hg38UCSC Ensembl
chr5:141975917..141975917hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15201804
SamplesHG002
Known GenesFGF1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3943131
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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