A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194192



Internal ID22344540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139378301..139383300hg38UCSC Ensembl
chr5:138713990..138718989hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7539n152
Supporting Variantsnssv14325769, nssv14325772, nssv14325764, nssv14325767, nssv14325770, nssv14325766, nssv14325765, nssv14325771, nssv14325768
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC23A1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194192
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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