A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138522



Internal ID337706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148858587..149046587hg38UCSC Ensembl
chr1:144837856..145025829hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38188001
hg19187974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890216
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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