A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281404



Internal ID22288936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:43406146..43437787hg38UCSC Ensembl
Outerchr10:43901594..43933235hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381997
hg191997
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250094
Supporting Variants
SamplesNA19240
Known GenesHNRNPF, ZNF487
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281404
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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