A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215333



Internal ID22361702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:26191320..26241517hg38UCSC Ensembl
Outerchr10:26480249..26530446hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3850198
hg1950198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276031, nssv14276032, nssv14276033
SamplesNA19238, HG00733, HG00514
Known GenesGAD2, MYO3A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215333
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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