A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252638



Internal ID21700147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120594905..120594905hg38UCSC Ensembl
chr12:121032708..121032708hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38824
hg19824
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715038
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)nssv17252638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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