A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715586



Internal ID21741907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161255931..161255931hg38UCSC Ensembl
chr1:161225721..161225721hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244010
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)nsv5715586
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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