A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292057



Internal ID22272187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27167749..27167749hg38UCSC Ensembl
chr2:27390617..27390617hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562820
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292057
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer