A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196407



Internal ID22346420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26248385..26248473hg38UCSC Ensembl
chr2:26471253..26471341hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14288946
SamplesNA19240
Known GenesHADHB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196407
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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