A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432055



Internal ID22174868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151847197..151847251hg38UCSC Ensembl
chr1:151819673..151819727hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3281067
Supporting Variants
SamplesHG00514
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)nssv14432055
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer