A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252749



Internal ID21700258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121560845..121560845hg38UCSC Ensembl
chr6:121881991..121881991hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715044
Supporting Variants
Samples
Known Genes
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)nssv17252749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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