A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209089



Internal ID22357217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178802142..178854304hg38UCSC Ensembl
Outerchr2:179666869..179719031hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3852163
hg1952163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264399
SamplesHG00732
Known GenesCCDC141, TTN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209089
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