A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245544



Internal ID22376180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11954074..11954145hg38UCSC Ensembl
chr17:11857391..11857462hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461939
SamplesHG00733
Known GenesDNAH9
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a L1 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245544
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