A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675805



Internal ID21702126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1927200..1927200hg38UCSC Ensembl
chr2:1930972..1930972hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17206453, nssv17195607
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)nsv5675805
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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