A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5909350



Internal ID22684560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:118210065..118210164hg38UCSC Ensembl
chr8:119222304..119222403hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436027
Samples
Known GenesSAMD12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5909350
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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