A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144163



Internal ID343367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48466000..48472106hg38UCSC Ensembl
chr13:49040136..49046242hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg386107
hg196107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687590
Samples
Known GenesRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144163
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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