A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527344



Internal ID303445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4143196..4215557hg38UCSC Ensembl
chr17:4046490..4118852hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3872362
hg1972363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710474
Samples
Known GenesANKFY1, CYB5D2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527344
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