A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17241989



Internal ID21689498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156752879..156752879hg38UCSC Ensembl
chr1:156722671..156722671hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718578
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)nssv17241989
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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