A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241094



Internal ID21688603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139242202..139242202hg38UCSC Ensembl
chr6:139563339..139563339hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718198
Supporting Variants
Samples
Known GenesTXLNB
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)nssv17241094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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