A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245055



Internal ID22376037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:5558988..5579477hg38UCSC Ensembl
Outerchr7_gl000195_random:55765..81366hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg384932
hg194932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268786, nssv14268785, nssv14268784
SamplesNA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245055
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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