A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294168



Internal ID22130567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104947174..104947174hg38UCSC Ensembl
chr2:105563632..105563632hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562151
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294168
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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