A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6417992



Internal ID21075545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74314101..74326600hg38UCSC Ensembl
chr8:75226336..75238835hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3812500
hg1912500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7390n223
Supporting Variantsnssv18236349
Samples
Known GenesJPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6417992
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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