A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281375



Internal ID22220049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:43176614..43183125hg38UCSC Ensembl
Outerchr10:43672062..43678573hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381487
hg191487
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235033
Supporting Variants
SamplesHG00733
Known GenesCSGALNACT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281375
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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