A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226829



Internal ID22369505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:754178..771230hg38UCSC Ensembl
Outerchr12:863344..880396hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3817053
hg1917053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255810, nssv14255809
SamplesHG00513, HG00514
Known GenesWNK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226829
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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