A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535418



Internal ID22404664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134605468..134605468hg38UCSC Ensembl
chr2:135363038..135363038hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394174, nssv14450074
SamplesNA19240, HG00733
Known GenesTMEM163
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3535418
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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