A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989882



Internal ID60666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147045951..147116371hg38UCSC Ensembl
chr6:147367087..147437507hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3870421
hg1970421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472580
Supporting Variants
Samples
Known GenesSTXBP5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989882
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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