A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3183618



Internal ID22337714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121149850..121150173hg38UCSC Ensembl
chr1:120873148..120873471hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405967, nssv14462336
SamplesNA19240, HG00733
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)nsv3183618
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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