A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240195



Internal ID21687704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90075803..90075803hg38UCSC Ensembl
chr6:90785522..90785522hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717324
Supporting Variants
Samples
Known GenesBACH2
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)nssv17240195
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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