A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263805



Internal ID22270689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:153214642..153268701hg38UCSC Ensembl
Outerchr1:153187118..153241177hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226615
Supporting Variants
SamplesNA19239
Known GenesLOR, PRR9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263805
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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