A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240790



Internal ID21688299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185290279..185290279hg38UCSC Ensembl
chr1:185259411..185259411hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719368
Supporting Variants
Samples
Known GenesSWT1
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)nssv17240790
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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