A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5913830



Internal ID22689046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69494213..69494288hg38UCSC Ensembl
chr8:70406448..70406523hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17434901
Samples
Known GenesSULF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5913830
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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