A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727524



Internal ID21753845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96314284..96314284hg38UCSC Ensembl
chr9:99076566..99076566hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg381296
hg191296
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239407, nssv17244555
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)nsv5727524
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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