A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9819n152



Internal ID22825522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135566512..135593484hg38UCSC Ensembl
chr9:138458358..138485330hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3826973
hg1926973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3227995, nsv3219654
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesLOC100130954, PAEP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv9819n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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