A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719892



Internal ID21746213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203014881..203014881hg38UCSC Ensembl
chr1:202984009..202984009hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38555
hg19555
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243563
Samples
Known GenesTMEM183A, TMEM183B
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5719892
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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