A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453059



Internal ID231198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:238431421..238503429hg38UCSC Ensembl
chr1:238594721..238666729hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3872009
hg1972009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899423
Samples
Known GenesLINC01139
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453059
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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