A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448042



Internal ID22505912
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 StatusS
Merged Variantsnsv5926443
Supporting Variants
Samples
Known GenesSPIDR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448042
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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