A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16993146



Internal ID62887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:18430137..18430214hg38UCSC Ensembl
chr7:18469760..18469837hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473080
Supporting Variants
Samples
Known GenesHDAC9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16993146
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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