A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192706



Internal ID22343252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52444906..52444958hg38UCSC Ensembl
chr1:52910578..52910630hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215n152
Supporting Variantsnssv14399460
SamplesNA19240
Known GenesZCCHC11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192706
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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