A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516796



Internal ID8411071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11861051..11874811hg38UCSC Ensembl
Innerchr12:12013985..12027745hg19UCSC Ensembl
Innerchr12:11905252..11919012hg18UCSC Ensembl
Innerchr12:11905252..11919012hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3813761
hg1913761
hg1813761
hg1713761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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, RNU6-19P
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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