A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195591



Internal ID22345746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248549476..248649010hg38UCSC Ensembl
Outerchr1:248712777..248812311hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3899535
hg1999535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv691n152
Supporting Variantsnssv14254027, nssv14254028
SamplesNA19239, NA19240
Known GenesOR2T10, OR2T11, OR2T29, OR2T34, OR2T35
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195591
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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