A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251603



Internal ID21699112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37300671..37300671hg38UCSC Ensembl
chr6:37268447..37268447hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38896
hg19896
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725465
Supporting Variants
Samples
Known GenesTBC1D22B
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)nssv17251603
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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