A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469753



Internal ID15534468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143549274..143780253hg38UCSC Ensembl
Innerchr7:143246367..143477346hg19UCSC Ensembl
Innerchr7:142956489..143108279hg18UCSC Ensembl
Innerchr7:142717297..142869087hg16UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38230980
hg19230980
hg18151791
hg16151791
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12n29
Supporting Variantsnssv1673896, nssv1672460, nssv1672995, nssv1672337, nssv1673473, nssv1675576, nssv1674850, nssv1672168, nssv1674470, nssv1672112, nssv1675365, nssv1675260, nssv1673981, nssv1675228, nssv1674375, nssv1672633, nssv1676390, nssv1673668, nssv1672361, nssv1674242, nssv1672169, nssv1675001, nssv1672588, nssv1676124, nssv1675420, nssv1674404, nssv1672338, nssv1674403, nssv1675556
Samples
Known GenesCTAGE15, CTAGE6, FAM115C
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)nsv469753
Frequency
Sample Size265
Observed Gain27
Observed Loss2
Observed Complex0
Frequencyn/a


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