A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727533



Internal ID21753854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109967905..109967905hg38UCSC Ensembl
chr12:110405710..110405710hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235538
Samples
Known GenesGIT2
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)nsv5727533
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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