A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542603



Internal ID22411681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63688220..63688220hg38UCSC Ensembl
chr6:64398121..64398121hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399524
SamplesNA19240
Known GenesPHF3
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)nsv3542603
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