A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948490



Internal ID21368559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2480930..2480930hg38UCSC Ensembl
chr19:2480928..2480928hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15185146
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948490
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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