A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248075



Internal ID21695584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85525061..85525061hg38UCSC Ensembl
chr6:86234779..86234779hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721253
Supporting Variants
Samples
Known GenesSNX14
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)nssv17248075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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