A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201715



Internal ID21649224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12462167..12462167hg38UCSC Ensembl
chr19:12572981..12572981hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706338
Supporting Variants
Samples
Known GenesZNF709
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17201715
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