A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426934



Internal ID205849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6542721..6552567hg38UCSC Ensembl
chr1:6602781..6612627hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg389847
hg199847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906318
Samples
Known GenesNOL9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426934
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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