A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210717



Internal ID22358528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:14257410..14275662hg38UCSC Ensembl
Outerchr2:14397534..14415786hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38878
hg19878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265792, nssv14265793
SamplesHG00731, HG00732
Known GenesLINC00276
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210717
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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