A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17182010



Internal ID21629519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74471701..74471701hg38UCSC Ensembl
chr7:73886031..73886031hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688059
Supporting Variants
Samples
Known GenesGTF2IRD1
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)nssv17182010
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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