A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406080



Internal ID22315281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151847197..151847271hg38UCSC Ensembl
chr1:151819673..151819747hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3282949
Supporting Variants
SamplesNA19240
Known GenesTHEM5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406080
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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