A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542259



Internal ID22411246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94726437..94726437hg38UCSC Ensembl
chr1:95191993..95191993hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381941
hg191941
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440641
SamplesHG00733
Known GenesLINC01057
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)nsv3542259
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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