A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230426



Internal ID20797466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56987501..57034000hg38UCSC Ensembl
chr8:57900060..57946559hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3846500
hg1946500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6434820
Supporting Variants
Samples
Known GenesIMPAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230426
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00099


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