A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262509



Internal ID22328717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29887009..29902574hg38UCSC Ensembl
Outerchr19:30377916..30393481hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3815566
hg1915566
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218727
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262509
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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