A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989871



Internal ID60658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146888821..146899088hg38UCSC Ensembl
chr6:147209957..147220224hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3810268
hg1910268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465610
Supporting Variants
Samples
Known GenesSTXBP5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989871
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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