A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225494



Internal ID22368603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74311062..74345104hg38UCSC Ensembl
Outerchr11:74022107..74056149hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3834043
hg1934043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254444, nssv14254445, nssv14254446
SamplesHG00512, HG00732, HG00733
Known GenesP4HA3, PGM2L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225494
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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