A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6433802



Internal ID21091355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11890523..12010261hg38UCSC Ensembl
chr8:11748032..11867770hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38119739
hg19119739
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18224026
Samples
Known GenesDEFB134, DEFB135, DEFB136
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6433802
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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