A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5920464



Internal ID22695687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30077121..30080625hg38UCSC Ensembl
chr8:29934637..29938141hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383505
hg193505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17437975
Samples
Known GenesMIR548O2, TMEM66
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5920464
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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