A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139944



Internal ID339135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18141692..18164861hg38UCSC Ensembl
chr2:18322958..18346127hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3823170
hg1923170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910140
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139944
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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