A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521345



Internal ID6023050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71572455..71685529hg19UCSC Ensembl
Innerchr2:71425963..71539037hg18UCSC Ensembl
Innerchr2:71484110..71597184hg17UCSC Ensembl
Cytoband2p13.2
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 Variantsnssv697954
Samples
Known GenesDYSF, ZNF638
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)nsv521345
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