A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208623



Internal ID22356830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68686501..68688669hg38UCSC Ensembl
chr2:68913633..68915801hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382169
hg192169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14290617, nssv14290625, nssv14290624, nssv14290619, nssv14290621, nssv14290622, nssv14290620, nssv14290623, nssv14290618
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)nsv3208623
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