A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546210



Internal ID22415206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:29063354..29063354hg38UCSC Ensembl
chr15:29355557..29355557hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38520
hg19520
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445661
SamplesHG00733
Known GenesAPBA2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3546210
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer