A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377907



Internal ID22328469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12174139..12174202hg38UCSC Ensembl
chr1:12234196..12234259hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191792
Supporting Variants
SamplesNA19240
Known GenesTNFRSF1B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14377907
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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