A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6140104



Internal ID339296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122913829..122913900hg38UCSC Ensembl
chr3:122632676..122632747hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936596
Samples
Known GenesSEMA5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6140104
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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