A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227865



Internal ID22370223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1572204..1616066hg38UCSC Ensembl
Outerchr2:1575976..1619838hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266792, nssv14266791
SamplesNA19239, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227865
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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