A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17446202



Internal ID22504072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9142487..9142879hg38UCSC Ensembl
chr8:8999997..9000389hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5914386
Supporting Variants
Samples
Known GenesPPP1R3B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17446202
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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