A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211917



Internal ID22359321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241160724..241186497hg38UCSC Ensembl
Outerchr2:242100139..242125912hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266530, nssv14266529
SamplesNA19239, HG00732
Known GenesPPP1R7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211917
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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