A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926823



Internal ID22702050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30066139..30066775hg38UCSC Ensembl
chr8:29923655..29924291hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435765
Samples
Known GenesMIR548O2, TMEM66
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926823
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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