A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232385



Internal ID22372488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:43176614..43197612hg38UCSC Ensembl
Outerchr10:43672062..43693060hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252736, nssv14252734, nssv14252733, nssv14252735
SamplesHG00512, HG00731, HG00732, HG00514
Known GenesCSGALNACT2, RASGEF1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232385
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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