A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253752



Internal ID22220012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124466365..124513120hg38UCSC Ensembl
Outerchr10:126154934..126201689hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg382464
hg192464
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243405
Supporting Variants
SamplesHG00733
Known GenesLHPP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253752
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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