A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444287



Internal ID22240294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36144841..36145095hg38UCSC Ensembl
chr11:36166391..36166645hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3288712
Supporting Variants
SamplesHG00733
Known GenesLDLRAD3
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)nssv14444287
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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