A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14373402



Internal ID22278011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96272546..96272546hg38UCSC Ensembl
chr1:96738102..96738102hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562003
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14373402
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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