A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207250



Internal ID22355675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193152717..193168963hg38UCSC Ensembl
Outerchr3:192870506..192886752hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3816247
hg1916247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271291, nssv14271293, nssv14271292, nssv14271289, nssv14271287, nssv14271288, nssv14271290, nssv14271294
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207250
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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