A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469604



Internal ID15534319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34098948..34260397hg38UCSC Ensembl
Innerchr5:34099053..34260502hg19UCSC Ensembl
Innerchr5:34134810..34296259hg18UCSC Ensembl
Innerchr5:34144554..34306003hg16UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38161450
hg19161450
hg18161450
hg16161450
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673277, nssv1676359, nssv1676577, nssv1675839, nssv1674866, nssv1672378, nssv1672865, nssv1673128
Samples
Known GenesC1QTNF3-AMACR
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)nsv469604
Frequency
Sample Size265
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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