A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182208



Internal ID22336972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24076496..24076813hg38UCSC Ensembl
chr1:24402986..24403303hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv146n152
Supporting Variantsnssv14377091, nssv14445022
SamplesNA19240, HG00733
Known GenesMYOM3
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)nsv3182208
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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