A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226014



Internal ID22368963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9464430..9591975hg38UCSC Ensembl
Outerchr12:9617026..9744571hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38127546
hg19127546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1725n152
Supporting Variantsnssv14255244, nssv14255242, nssv14255246, nssv14255245, nssv14255241, nssv14255243
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226014
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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