A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469592



Internal ID15187621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63092730..63285359hg38UCSC Ensembl
Innerchr12:63486510..63679139hg19UCSC Ensembl
Innerchr12:61772777..61965406hg18UCSC Ensembl
Innerchr12:61772777..61965406hg16UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38192630
hg19192630
hg18192630
hg16192630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675951, nssv1676429, nssv1672147, nssv1675163, nssv1676674, nssv1675231
Samples
Known GenesAVPR1A
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469592
Frequency
Sample Size265
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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