A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204488



Internal ID22353329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:169183581..169288506hg38UCSC Ensembl
Outerchr1:169152819..169257744hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38104926
hg19104926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256029, nssv14256028
SamplesHG00513, HG00514
Known GenesNME7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204488
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