A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556856



Internal ID22425672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76619300..76619300hg38UCSC Ensembl
chr11:76330344..76330344hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14373879, nssv14415474, nssv14442672
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3556856
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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