A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541455



Internal ID22410560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37001133..37001133hg38UCSC Ensembl
chr4:37002755..37002755hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397912
SamplesNA19240
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)nsv3541455
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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