A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235033



Internal ID22373187
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281377, nssv14281378, nssv14281372, nssv14281375, nssv14281374, nssv14281376, nssv14281373
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesCSGALNACT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235033
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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