A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14455527



Internal ID22215702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30246698..30246775hg38UCSC Ensembl
chr8:30104214..30104291hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3272526
Supporting Variants
SamplesHG00733
Known GenesMIR548O2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14455527
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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