A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676285



Internal ID21702606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23157029..23157029hg38UCSC Ensembl
chr7:23196648..23196648hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181651
Samples
Known GenesKLHL7
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)nsv5676285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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