A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402666



Internal ID22294040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60604039..60604349hg38UCSC Ensembl
chr1:61069711..61070021hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181488
Supporting Variants
SamplesNA19240
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)nssv14402666
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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