A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17177510



Internal ID21625019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110005960..110005960hg38UCSC Ensembl
chr1:110548582..110548582hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5689300
Supporting Variants
Samples
Known GenesAHCYL1
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)nssv17177510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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