A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545239



Internal ID22414256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23218588..23218588hg38UCSC Ensembl
chr18:20798552..20798552hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14446088
SamplesHG00733
Known GenesCABLES1
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)nsv3545239
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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