A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237078



Internal ID21684587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201726204..201726204hg38UCSC Ensembl
chr2:202590927..202590927hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722200
Supporting Variants
Samples
Known GenesALS2
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)nssv17237078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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