A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254209



Internal ID22270911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:159665504..159683692hg38UCSC Ensembl
Outerchr1:159635294..159653482hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3818189
hg1918189
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202087
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254209
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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