A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3185448



Internal ID22338680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9379976..9380341hg38UCSC Ensembl
chr1:9440035..9440400hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14382367, nssv14440981
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3185448
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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