A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294402



Internal ID22160734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206071254..206071319hg38UCSC Ensembl
chr2:206935978..206936043hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER complex substitution
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185315
Supporting Variants
SamplesHG00514
Known GenesINO80D
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Commentscomplex variant
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14294402
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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