A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519438



Internal ID15446731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51444005..51506321hg38UCSC Ensembl
Innerchr12:51837789..51900105hg19UCSC Ensembl
Innerchr12:50124056..50186372hg18UCSC Ensembl
Innerchr12:50124056..50186372hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3862317
hg1962317
hg1862317
hg1762317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685479, nssv676734, nssv687928, nssv661832, nssv658470, nssv656203, nssv680012, nssv684820, nssv660120, nssv657658, nssv672171
Samples
Known GenesSLC4A8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519438
Frequency
Sample Size2026
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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