A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262776



Internal ID22277697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:44543799..44564807hg38UCSC Ensembl
Outerchr19:45047786..45068053hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3821009
hg1920268
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226943
Supporting Variants
SamplesNA19239
Known GenesCEACAM22P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262776
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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