A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532411



Internal ID22401738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39234647..39234647hg38UCSC Ensembl
chr1:39700319..39700319hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377897, nssv14440944, nssv14413583
SamplesNA19240, HG00733, HG00514
Known GenesMACF1
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)nsv3532411
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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