A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217034



Internal ID22362826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:206770523..206814805hg38UCSC Ensembl
Outerchr2:207635247..207679529hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266010, nssv14266009
SamplesNA19239, HG00513
Known GenesFASTKD2, MIR3130-1, MIR3130-2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217034
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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