A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561427



Internal ID22430195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170643318..170643318hg38UCSC Ensembl
chr1:170612459..170612459hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14293614, nssv14293613, nssv14293612, nssv14293611
SamplesNA19238, NA19239, HG00732, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561427
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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