A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006776



Internal ID72136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10060075..10060126hg38UCSC Ensembl
chr8:9917585..9917636hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399153
Supporting Variants
Samples
Known GenesMSRA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006776
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004683


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