A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17210179



Internal ID21657688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1927016..1927016hg38UCSC Ensembl
chr4:1928743..1928743hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5689471
Supporting Variants
Samples
Known GenesWHSC1
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)nssv17210179
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