A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219565



Internal ID22364553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30277537..30366172hg38UCSC Ensembl
Outerchr12:30430470..30519105hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3888636
hg1988636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256336, nssv14256335
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219565
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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