A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404942



Internal ID22310618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30123053..30123124hg38UCSC Ensembl
chr17:28450071..28450142hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191067
Supporting Variants
SamplesNA19240
Known GenesNSRP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404942
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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