A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229231



Internal ID22371140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:81695908..81717859hg38UCSC Ensembl
Outerchr9:84310823..84332774hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3821952
hg1921952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281213, nssv14281205, nssv14281207, nssv14281206, nssv14281212, nssv14281211, nssv14281209, nssv14281208, nssv14281210
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC101927502
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229231
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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