A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986438



Internal ID58391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112068840..112068891hg38UCSC Ensembl
chr6:112390043..112390094hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409290
Supporting Variants
Samples
Known GenesWISP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986438
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004527


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