A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524742



Internal ID300936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43783736..43795638hg38UCSC Ensembl
chr17:41861104..41873006hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3811903
hg1911903
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713260
Samples
Known GenesC17orf105
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524742
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