A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139579



Internal ID338767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131323574..131341574hg38UCSC Ensembl
chr3:131042418..131060418hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3818001
hg1918001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937739
Samples
Known GenesLOC339874, NEK11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139579
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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