A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212579



Internal ID22359780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165560579..165574237hg38UCSC Ensembl
Outerchr1:165529816..165543474hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381820
hg191820
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264306, nssv14264307
SamplesNA19238, HG00513
Known GenesLOC400794, LRRC52
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212579
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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