A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17231336



Internal ID21678845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37683968..37683968hg38UCSC Ensembl
chr7:37723571..37723571hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5680571
Supporting Variants
Samples
Known Genes
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)nssv17231336
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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