A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211381



Internal ID22358955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:130500160..130512864hg38UCSC Ensembl
Outerchr9:133375547..133388251hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3812705
hg1912705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9764n152
Supporting Variantsnssv14283675, nssv14283674
SamplesHG00732, HG00733
Known GenesASS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211381
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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