A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280809



Internal ID22185820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:138274566..138279756hg38UCSC Ensembl
Outerchr11:127940..137975hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg385629
hg195629
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242856
Supporting Variants
SamplesHG00731
Known GenesLINC01001
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280809
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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