A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271103



Internal ID22116401
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207516
Supporting Variants
SamplesHG00512
Known GenesMRPL47, NDUFB5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271103
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