A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230237



Internal ID22371820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31048537..31055989hg38UCSC Ensembl
chr17:29375555..29383007hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387453
hg197453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388608, nssv14378309, nssv14388369, nssv14373257
SamplesNA19238, HG00731, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230237
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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