A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252004



Internal ID21699513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139298679..139298679hg38UCSC Ensembl
chr5:138634368..138634368hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718799
Supporting Variants
Samples
Known GenesMATR3
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)nssv17252004
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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