A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266818



Internal ID22273530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6649832..6673998hg38UCSC Ensembl
Outerchr2:6789964..6814130hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211484
Supporting Variants
SamplesNA19239
Known GenesMIR7515
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266818
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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