A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264307



Internal ID22257624
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212579
Supporting Variants
SamplesNA19238
Known GenesLOC400794, LRRC52
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264307
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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