A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561807



Internal ID22430575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242521617..242521617hg38UCSC Ensembl
chr1:242684919..242684919hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14318072, nssv14318071
SamplesNA19239, HG00731
Known GenesPLD5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561807
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