A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215992



Internal ID22362137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:182496633..182508016hg38UCSC Ensembl
Outerchr2:183361360..183372743hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg381628
hg191628
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265756, nssv14265757
SamplesHG00513, HG00514
Known GenesPDE1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215992
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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