A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447727



Internal ID22223590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206943694..206943694hg38UCSC Ensembl
chr2:207808418..207808418hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539692
Supporting Variants
SamplesHG00733
Known GenesCPO
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)nssv14447727
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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