A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236101



Internal ID21683610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100562433..100562433hg38UCSC Ensembl
chr12:100956211..100956211hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716183
Supporting Variants
Samples
Known GenesNR1H4
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)nssv17236101
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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