A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539831



Internal ID22408984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170514415..170514415hg38UCSC Ensembl
chr1:170483556..170483556hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386596
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)nsv3539831
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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