A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253408



Internal ID22116936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:103479009..103495112hg38UCSC Ensembl
Outerchr10:105238766..105254869hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg3835584
hg1935584
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247551
Supporting Variants
SamplesHG00512
Known GenesCALHM3, NEURL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253408
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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