A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215994



Internal ID22362138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30030788..30030840hg38UCSC Ensembl
chr8:29888304..29888356hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14339766
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215994
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