A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523220



Internal ID6020933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100338778..100344394hg19UCSC Ensembl
Innerchr1:100111366..100116982hg18UCSC Ensembl
Innerchr1:100050799..100056415hg17UCSC Ensembl
Cytoband1p21.2
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 Variantsnssv698942
Samples
Known GenesAGL
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)nsv523220
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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