A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6416957



Internal ID21074510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138283901..138883273hg38UCSC Ensembl
chr8:139296144..139895516hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38599373
hg19599373
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18237039
Samples
Known GenesCOL22A1, FAM135B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6416957
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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