A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241628



Internal ID21689137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136705504..136705504hg38UCSC Ensembl
chr6:137026642..137026642hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729913
Supporting Variants
Samples
Known GenesMAP3K5
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)nssv17241628
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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