A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418661



Internal ID197824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13076000..13150384hg38UCSC Ensembl
chr1:13143449..13217835hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3874385
hg1974387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894139
Samples
Known GenesHNRNPCP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418661
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