A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516796



Internal ID6015325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12013985..12027745hg19UCSC Ensembl
Innerchr12:11905252..11919012hg18UCSC Ensembl
Innerchr12:11905252..11919012hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv687427, nssv686462, nssv673444, nssv666493, nssv659048, nssv656724, nssv682080, nssv681887, nssv658041, nssv665743, nssv691285, nssv670447, nssv692625, nssv670361, nssv682016, nssv677337, nssv664891, nssv656564, nssv675070, nssv658294, nssv655538, nssv653459, nssv655626, nssv682780, nssv660468, nssv682430, nssv690253, nssv686082
Samples
Known GenesETV6
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv516796
Frequency
Sample Size2026
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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