A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942308



Internal ID21362378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5055892..5055892hg38UCSC Ensembl
chr17:4959187..4959187hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg382283
hg192283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15184951
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942308
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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