A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308247



Internal ID22131815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149764542..149764542hg38UCSC Ensembl
chr3:149482329..149482329hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562647
Supporting Variants
SamplesHG00513
Known GenesANKUB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308247
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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