A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194744



Internal ID22345018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15611445..15611621hg38UCSC Ensembl
chr2:15751569..15751745hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4498n152
Supporting Variantsnssv14432574
SamplesHG00514
Known GenesDDX1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194744
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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