A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248934



Internal ID21696443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6220809..6220809hg38UCSC Ensembl
chr1:6280869..6280869hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38761
hg19761
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718580
Supporting Variants
Samples
Known GenesRNF207
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)nssv17248934
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