A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208339



Internal ID22356598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6771551..6774650hg38UCSC Ensembl
chr5:6771664..6774763hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7177n152
Supporting Variantsnssv14319440, nssv14319438, nssv14319441, nssv14319442, nssv14319436, nssv14319437, nssv14319435, nssv14319439, nssv14319443
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208339
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