A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261975



Internal ID22267502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12632196..12657062hg38UCSC Ensembl
Outerchr19:12743010..12767876hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3824867
hg1924867
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217799
Supporting Variants
SamplesNA19238
Known GenesMAN2B1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261975
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