A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531590



Internal ID22400941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10183673..10183673hg38UCSC Ensembl
chr1:10243731..10243731hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381157
hg191157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388072
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3531590
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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