A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434111



Internal ID22177082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236753794..236759959hg38UCSC Ensembl
chr1:236917094..236923259hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg386166
hg196166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209785
Supporting Variants
SamplesHG00514
Known GenesACTN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14434111
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