A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450238



Internal ID22221062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238231711..238231711hg38UCSC Ensembl
chr2:239140352..239140352hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532755
Supporting Variants
SamplesHG00733
Known GenesLOC643387
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)nssv14450238
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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