A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14298314



Internal ID22185788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231004984..231005569hg38UCSC Ensembl
chr2:231869699..231870284hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209445
Supporting Variants
SamplesHG00731
Known GenesSPATA3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14298314
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