A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248267



Internal ID21695776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124446250..124446250hg38UCSC Ensembl
chr9:127208529..127208529hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38867
hg19867
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724620
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)nssv17248267
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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