A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5925384



Internal ID22700611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12135543..12140331hg38UCSC Ensembl
chr8:11993052..11997840hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384789
hg194789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17434548
Samples
Known GenesFAM66D, USP17L2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5925384
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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