A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552678



Internal ID22421571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55456309..55456309hg38UCSC Ensembl
chr19:55967676..55967676hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14448120, nssv14420122
SamplesHG00733, HG00514
Known GenesISOC2
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)nsv3552678
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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