A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469752



Internal ID15187781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145639438..145790042hg38UCSC Ensembl
Innerchr1:145645039..145795607hg19UCSC Ensembl
Innerchr1:144356396..144506964hg18UCSC Ensembl
Innerchr1:143393726..143544294hg16UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38150605
hg19150569
hg18150569
hg16150569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672632
Samples
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, RNF115
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)nsv469752
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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