A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252871



Internal ID22142389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124609779..124613798hg38UCSC Ensembl
Outerchr10:126298348..126302367hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243314
Supporting Variants
SamplesHG00513
Known GenesLHPP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252871
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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