A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5909746



Internal ID22684956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30070059..30082845hg38UCSC Ensembl
chr8:29927575..29940361hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3812787
hg1912787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438020
Samples
Known GenesMIR548O2, TMEM66
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5909746
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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