A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308813



Internal ID22141609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:218675191..218675191hg38UCSC Ensembl
chr1:218848533..218848533hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561934
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14308813
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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