A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890252



Internal ID167662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151064385..151064436hg38UCSC Ensembl
chr1:151036861..151036912hg19UCSC 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 Variantsnsv5560892
Supporting Variants
Samples
Known GenesMLLT11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890252
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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