A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725191



Internal ID21751512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42230370..42230370hg38UCSC Ensembl
chr6:42198108..42198108hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247814
Samples
Known GenesTRERF1
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)nsv5725191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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