A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252928



Internal ID22210660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:127707656..127727640hg38UCSC Ensembl
Outerchr10:129505920..129525904hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235825
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252928
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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