A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535449



Internal ID22404693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2019220..2019220hg38UCSC Ensembl
chr1:1950659..1950659hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440836
SamplesHG00733
Known Genes
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)nsv3535449
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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