A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532318



Internal ID22401645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225782469..225782469hg38UCSC Ensembl
chr2:226647185..226647185hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297515, nssv14298134, nssv14298133, nssv14297516, nssv14449822, nssv14297514, nssv14298132, nssv14421391
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, 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)nsv3532318
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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