A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926443



Internal ID22701670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47546122..47547643hg38UCSC Ensembl
chr8:48458684..48460205hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381522
hg191522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448042
Samples
Known GenesSPIDR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926443
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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