A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241219



Internal ID21688728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181121901..181121901hg38UCSC Ensembl
chr1:181091037..181091037hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381315
hg191315
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726209
Supporting Variants
Samples
Known Genes
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)nssv17241219
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