A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14435668



Internal ID22178762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6210534..6210584hg38UCSC Ensembl
chr10:6252497..6252547hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176123
Supporting Variants
SamplesHG00514
Known GenesPFKFB3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14435668
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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