A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530284



Internal ID22399671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26905659..26905659hg38UCSC Ensembl
chr1:27232150..27232150hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382799
hg192799
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14413841
SamplesHG00514
Known Genes
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)nsv3530284
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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