A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216739



Internal ID22362630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:146280916..146324051hg38UCSC Ensembl
Outerchr4:147202068..147245203hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg387689
hg197689
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274555, nssv14274553, nssv14274557, nssv14274552, nssv14274551, nssv14274556, nssv14274554, nssv14274559, nssv14274558
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC10A7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216739
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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