A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220573



Internal ID20787613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56989101..56998600hg38UCSC Ensembl
chr8:57901660..57911159hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg389500
hg199500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6417837
Supporting Variants
Samples
Known GenesIMPAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220573
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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