A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219640



Internal ID22364597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:76415451..76458656hg38UCSC Ensembl
Outerchr8:77327686..77370891hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3843206
hg1943206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281602, nssv14281601
SamplesHG00512, NA19239
Known GenesLINC01111
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219640
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