A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5913634



Internal ID22688850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47427825..47634746hg38UCSC Ensembl
chr8:48340387..48547308hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38206922
hg19206922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17441883
Samples
Known GenesSPIDR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5913634
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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