A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227069



Internal ID22369675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3166025..3189351hg38UCSC Ensembl
Outerchr2:3169796..3193122hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383375
hg193375
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264961, nssv14264962, nssv14264963
SamplesNA19238, NA19240, HG00513
Known GenesTSSC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227069
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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