A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229589



Internal ID22371392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112960107..113005195hg38UCSC Ensembl
Outerchr1:113502729..113547817hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381877
hg191877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269398, nssv14269396, nssv14269397
SamplesNA19239, HG00731, NA19240
Known GenesSLC16A1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229589
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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