A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253744



Internal ID22299204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68210617..68241535hg38UCSC Ensembl
Outerchr10:69970374..70001292hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234770
Supporting Variants
SamplesNA19240
Known GenesATOH7, MYPN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253744
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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