A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213861



Internal ID22360672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128636753..128663988hg38UCSC Ensembl
Outerchr9:131399032..131426267hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3827236
hg1927236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281975, nssv14281976, nssv14281977
SamplesHG00731, HG00732, NA19240
Known GenesWDR34
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213861
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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