A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730220



Internal ID21756541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49425176..49425176hg38UCSC Ensembl
chr13:49999312..49999312hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236972, nssv17249754
Samples
Known GenesCAB39L
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)nsv5730220
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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