A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251536



Internal ID21699045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151064385..151064385hg38UCSC Ensembl
chr1:151036861..151036861hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724252
Supporting Variants
Samples
Known GenesMLLT11
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)nssv17251536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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