A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528093



Internal ID6018626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37814080..37866005hg19UCSC Ensembl
Innerchr17:35067606..35119531hg18UCSC Ensembl
Innerchr17:35067606..35119531hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv704631
Samples
Known GenesERBB2, PGAP3, PNMT, STARD3, TCAP
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv528093
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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