A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524456



Internal ID300662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7527491..7540949hg38UCSC Ensembl
chr17:7430808..7444266hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3813459
hg1913459
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711210
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524456
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