A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730791



Internal ID21757112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218316581..218316581hg38UCSC Ensembl
chr2:219181304..219181304hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249062
Samples
Known GenesPNKD
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)nsv5730791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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