A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677177



Internal ID21703498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36698064..36698064hg38UCSC Ensembl
chr7:36737669..36737669hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181423, nssv17219370
Samples
Known GenesAOAH
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)nsv5677177
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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