A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542691



Internal ID22411768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27866292..27866292hg38UCSC Ensembl
chr1:28192803..28192803hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381074
hg191074
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413851
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542691
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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