A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239186



Internal ID21686695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47604714..47604714hg38UCSC Ensembl
chr3:47646204..47646204hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720520
Supporting Variants
Samples
Known GenesSMARCC1
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)nssv17239186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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