A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430633



Internal ID22488503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65829457..65832098hg38UCSC Ensembl
chr8:66741692..66744333hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382642
hg192642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5912557
Supporting Variants
Samples
Known GenesPDE7A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430633
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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