A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290626



Internal ID22136453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68978274..68978274hg38UCSC Ensembl
chr2:69205406..69205406hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562595
Supporting Variants
SamplesHG00513
Known GenesGKN1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290626
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