A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6424371



Internal ID21081924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66791690..67039259hg38UCSC Ensembl
chr8:67703925..67951494hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38247570
hg19247570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18235481
Samples
Known GenesC8orf44-SGK3, MCMDC2, PPP1R42, SGK3, SNHG6, SNORD87, TCF24
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6424371
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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