A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3284840



Internal ID22383210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41224..43353hg38UCSC Ensembl
chr12:62387..64516hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1665n152
Supporting Variantsnssv14375466
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3284840
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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