A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207516



Internal ID22355895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179597588..179612709hg38UCSC Ensembl
Outerchr3:179315376..179330497hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3815122
hg1915122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271103
SamplesHG00512
Known GenesMRPL47, NDUFB5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207516
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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