A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550868



Internal ID22419789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101226941..101226941hg38UCSC Ensembl
chr14:101693278..101693278hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379886, nssv14390674, nssv14383880, nssv14391784, nssv14417204, nssv14445026, nssv14376686, nssv14378789, nssv14372905, nssv14390638
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)nsv3550868
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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