A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461884



Internal ID22212611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:10767840..10768010hg38UCSC Ensembl
chr10:10809803..10809973hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176124
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14461884
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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