A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203374



Internal ID22352398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170349688..170350156hg38UCSC Ensembl
chr2:171206198..171206666hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295520, nssv14295518, nssv14295519
SamplesNA19238, NA19239, NA19240
Known GenesMYO3B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203374
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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