A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254947



Internal ID22231023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60031511..60061239hg38UCSC Ensembl
Outerchr11:59798984..59828712hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg384086
hg194086
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236071
Supporting Variants
SamplesHG00733
Known GenesMS4A3, OOSP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254947
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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