A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17203931



Internal ID21651440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37849715..37849715hg38UCSC Ensembl
chr1:38315387..38315387hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5689279
Supporting Variants
Samples
Known GenesMTF1
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)nssv17203931
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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