A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721818



Internal ID21748139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42695512..42695512hg38UCSC Ensembl
chr17:40847530..40847530hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242498, nssv17249144
Samples
Known GenesCNTNAP1
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)nsv5721818
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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