A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989884



Internal ID60667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147057284..147057335hg38UCSC Ensembl
chr6:147378420..147378471hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401411
Supporting Variants
Samples
Known GenesSTXBP5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989884
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002822


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