A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17200447



Internal ID21647956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81542201..81542201hg38UCSC Ensembl
chr17:79509227..79509227hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5708403
Supporting Variants
Samples
Known GenesC17orf70
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)nssv17200447
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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