A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252838



Internal ID22278984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:120683520..120734910hg38UCSC Ensembl
Outerchr10:122443032..122494422hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235462
Supporting Variants
SamplesNA19239
Known GenesMIR5694
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252838
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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