A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213547



Internal ID22360462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11353261..11382148hg38UCSC Ensembl
Outerchr10:11395260..11424147hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3828888
hg1928888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275523, nssv14275522, nssv14275521
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213547
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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