A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266010



Internal ID22273367
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217034
Supporting Variants
SamplesNA19239
Known GenesFASTKD2, MIR3130-1, MIR3130-2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266010
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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