A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194147



Internal ID22344506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2797101..2807550hg38UCSC Ensembl
chr1:2713666..2724115hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3810450
hg1910450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv45n152
Supporting Variantsnssv14408570
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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