A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015029



Internal ID77683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90810176..90810239hg38UCSC Ensembl
chr8:91822404..91822467hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485387
Supporting Variants
Samples
Known GenesNECAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015029
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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