A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539192



Internal ID22408363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160019937..160019937hg38UCSC Ensembl
chr3:159737724..159737724hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423585
SamplesHG00514
Known GenesIL12A-AS1
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)nsv3539192
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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