A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244555



Internal ID21692064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96314284..96314284hg38UCSC Ensembl
chr9:99076566..99076566hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727524
Supporting Variants
Samples
Known GenesSLC35D2
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)nssv17244555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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