A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3939281



Internal ID21359350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117547513..117547513hg38UCSC Ensembl
chr2:118305089..118305089hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187570
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3939281
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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