A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270809



Internal ID22293060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145410255..145415665hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381467
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210715
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270809
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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