A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469585



Internal ID15534300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29618326..29783528hg38UCSC Ensembl
Innerchr7:29657942..29823144hg19UCSC Ensembl
Innerchr7:29624467..29789669hg18UCSC Ensembl
Innerchr7:29400214..29565416hg16UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38165203
hg19165203
hg18165203
hg16165203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673664
Samples
Known GenesDPY19L2P3, LOC646762, MIR550A3, ZNRF2P2
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)nsv469585
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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