A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243786



Internal ID21691295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3051967..3051967hg38UCSC Ensembl
chr12:3161133..3161133hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725520
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)nssv17243786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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