A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3939048



Internal ID21359117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78238351..78238351hg38UCSC Ensembl
chr4:79159505..79159505hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15199963
SamplesHG002
Known GenesFRAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3939048
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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