A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531816



Internal ID22401162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18281123..18281123hg38UCSC Ensembl
chr1:18607617..18607617hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354650, nssv14354652, nssv14354651, nssv14438790
SamplesNA19239, HG00732, HG00733
Known GenesIGSF21
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3531816
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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