A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17186366



Internal ID21633875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23782001..23782001hg38UCSC Ensembl
chr1:24108491..24108491hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688696
Supporting Variants
Samples
Known GenesPITHD1
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)nssv17186366
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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