A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229194



Internal ID22371119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:26939842..26957961hg38UCSC Ensembl
chr17:25266868..25284987hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3818120
hg1918120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389954, nssv14376330, nssv14387367, nssv14376961, nssv14383071, nssv14378111, nssv14379664, nssv14391552, nssv14391674
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)nsv3229194
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