A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263444



Internal ID22199380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:74199276..74225113hg38UCSC Ensembl
Outerchr18:71866511..71892348hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg383076
hg193076
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245393
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263444
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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