A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294509



Internal ID22222724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126112799..126112799hg38UCSC Ensembl
chr2:126870376..126870376hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562173
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294509
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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