A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229375



Internal ID22371245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128647210..128656216hg38UCSC Ensembl
Outerchr9:131409489..131418495hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg389007
hg199007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281300, nssv14281305, nssv14281304, nssv14281307, nssv14281301, nssv14281302, nssv14281303, nssv14281306
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesWDR34
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229375
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer