A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010807



Internal ID74835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47696704..47700168hg38UCSC Ensembl
chr8:48609266..48612730hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383465
hg193465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481191
Supporting Variants
Samples
Known GenesSPIDR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010807
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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