A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211484



Internal ID22359032
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266818, nssv14266819
SamplesNA19239, NA19240
Known GenesMIR7515
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211484
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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