A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561836



Internal ID22430604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55971642..55971642hg38UCSC Ensembl
chr1:56437315..56437315hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367433, nssv14367436, nssv14367434, nssv14367435
SamplesHG00512, NA19238, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561836
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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