A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248635



Internal ID21696144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69354195..69354195hg38UCSC Ensembl
chr12:69747975..69747975hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722779
Supporting Variants
Samples
Known GenesLYZ
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17248635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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