A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718443



Internal ID21744764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162429662..162429662hg38UCSC Ensembl
chr1:162399452..162399452hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250538, nssv17248485
Samples
Known Genes
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)nsv5718443
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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