A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264829



Internal ID22264662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1077514..1148378hg38UCSC Ensembl
Outerchr2:1073200..1144064hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3870865
hg1970865
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201679
Supporting Variants
SamplesNA19238
Known GenesSNTG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264829
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