A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718813



Internal ID21745134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52075105..52075105hg38UCSC Ensembl
chr1:52540777..52540777hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238773
Samples
Known GenesBTF3L4
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)nsv5718813
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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