A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244128



Internal ID21691637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51635800..51635800hg38UCSC Ensembl
chr17:49713161..49713161hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729671
Supporting Variants
Samples
Known GenesCA10
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17244128
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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