A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17195684



Internal ID21643193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2304370..2304370hg38UCSC Ensembl
chr2:2308142..2308142hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675754
Supporting Variants
Samples
Known GenesMYT1L
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)nssv17195684
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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