A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204355



Internal ID22353219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:63934964..63966478hg38UCSC Ensembl
Outerchr6:64644857..64676371hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3831515
hg1931515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276703, nssv14276704
SamplesHG00512, HG00514
Known GenesEYS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204355
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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