A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141375



Internal ID340571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120033692..120047314hg38UCSC Ensembl
chr5:119369387..119383009hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3813623
hg1913623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973355
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141375
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer