A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267371



Internal ID22259304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109623650..109711941hg38UCSC Ensembl
Outerchr1:110166272..110254563hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3888292
hg1988292
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190813
Supporting Variants
SamplesNA19238
Known GenesAMPD2, GSTM1, GSTM2, GSTM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267371
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