A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430165



Internal ID22488035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30063912..30065985hg38UCSC Ensembl
chr8:29921428..29923501hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382074
hg192074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5921319
Supporting Variants
Samples
Known GenesMIR548O2, TMEM66
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430165
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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