A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14467571



Internal ID22219754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207609758..207612059hg38UCSC Ensembl
chr2:208474482..208476783hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3282022
Supporting Variants
SamplesHG00733
Known GenesMETTL21A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14467571
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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