A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249062



Internal ID21696571
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 StatusS
Merged Variantsnsv5730791
Supporting Variants
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)nssv17249062
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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