A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17181651



Internal ID21629160
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 StatusS
Merged Variantsnsv5676285
Supporting Variants
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)nssv17181651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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