A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139992



Internal ID339184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:1432000..2238000hg38UCSC Ensembl
chr3:1473684..2279684hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38806001
hg19806001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926342
Samples
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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