A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989895



Internal ID60676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147296421..147300095hg38UCSC Ensembl
chr6:147617557..147621231hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg383675
hg193675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455706
Supporting Variants
Samples
Known GenesSTXBP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989895
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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