A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690536



Internal ID21716857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147057284..147057284hg38UCSC Ensembl
chr6:147378420..147378420hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180855, nssv17217501
Samples
Known GenesSTXBP5-AS1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5690536
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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