A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192667



Internal ID22343214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30686563..30708727hg38UCSC Ensembl
Outerchr1:31159410..31181574hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3822165
hg1922165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253294, nssv14253293
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192667
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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