A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263375



Internal ID22185499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40570670..40596839hg38UCSC Ensembl
Outerchr19:41076576..41102745hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3826170
hg1926170
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213188
Supporting Variants
SamplesHG00731
Known GenesLTBP4, SHKBP1, SPTBN4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263375
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