A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200291



Internal ID22349764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84594810..84681990hg38UCSC Ensembl
Outerchr3:84643961..84731141hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3887181
hg1987181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271030, nssv14271026, nssv14271027, nssv14271028, nssv14271029
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
Known GenesLINC00971
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200291
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer