A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249754



Internal ID21697263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49425176..49425176hg38UCSC Ensembl
chr13:49999312..49999312hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730220
Supporting Variants
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)nssv17249754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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