A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247689



Internal ID21695198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210013813..210013813hg38UCSC Ensembl
chr2:210878537..210878537hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381315
hg191315
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723940
Supporting Variants
Samples
Known GenesRPE
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)nssv17247689
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer