A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14289347



Internal ID22263769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55938553..55938553hg38UCSC Ensembl
chr2:56165688..56165688hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562898
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14289347
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