A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17213575



Internal ID21661084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38438578..38438578hg38UCSC Ensembl
chr7:38478178..38478178hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677089
Supporting Variants
Samples
Known GenesAMPH
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)nssv17213575
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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