A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528589



Internal ID22397978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5481484..5481610hg38UCSC Ensembl
chr12:5590650..5590776hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362581, nssv14362584, nssv14362586, nssv14362583, nssv14362582, nssv14362579, nssv14362580, nssv14362578, nssv14362585
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNTF3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528589
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