A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189034



Internal ID21636543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59873839..59873839hg38UCSC Ensembl
chr10:61633597..61633597hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696066
Supporting Variants
Samples
Known GenesCCDC6
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)nssv17189034
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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