A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012984



Internal ID76333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70697000..70720000hg38UCSC Ensembl
chr8:71609235..71632235hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3823001
hg1923001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5482045
Supporting Variants
Samples
Known GenesXKR9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012984
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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