A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527744



Internal ID22397131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148869198..148869792hg38UCSC Ensembl
chr7:148566290..148566884hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14338539, nssv14338540
SamplesNA19238, HG00731
Known GenesEZH2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527744
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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