A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242450



Internal ID21689959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101778255..101778255hg38UCSC Ensembl
chr12:102172033..102172033hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720795
Supporting Variants
Samples
Known GenesGNPTAB
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)nssv17242450
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