A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254113



Internal ID22130950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:33592434..33652336hg38UCSC Ensembl
Outerchr11:33613980..33673882hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381704
hg191704
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236602
Supporting Variants
SamplesHG00513
Known GenesKIAA1549L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254113
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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