A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271671



Internal ID22152176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152570855..152692854hg38UCSC Ensembl
Outerchr1:152543331..152665330hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38122000
hg19122000
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190392
Supporting Variants
SamplesHG00514
Known GenesLCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271671
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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