A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199408



Internal ID22348994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34722178..34740626hg38UCSC Ensembl
Outerchr6:34689955..34708403hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3818449
hg1918449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7853n152
Supporting Variantsnssv14274948, nssv14274951, nssv14274950, nssv14274952, nssv14274953, nssv14274949
SamplesNA19238, NA19239, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199408
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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