A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17447524



Internal ID22505394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69626119..69626235hg38UCSC Ensembl
chr8:70538354..70538470hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5919288
Supporting Variants
Samples
Known GenesSULF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17447524
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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