A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138302



Internal ID337486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145458587..145468818hg38UCSC Ensembl
chr1:145962220..145972470hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3810232
hg1910251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21n206
Supporting Variantsnssv16890052
Samples
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138302
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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