A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557355



Internal ID22426162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69160375..69160375hg38UCSC Ensembl
chr8:70072610..70072610hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38912
hg19912
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14428578, nssv14453415, nssv14402821
SamplesNA19240, HG00733, HG00514
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)nsv3557355
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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