A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252738



Internal ID22126772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:48664748..48681771hg38UCSC Ensembl
Outerchr10:49872793..49889816hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38687
hg19687
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250033
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252738
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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