A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469682



Internal ID15187711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102562588..102719526hg38UCSC Ensembl
Innerchr7:102203035..102359973hg19UCSC Ensembl
Innerchr7:101990133..102147209hg18UCSC Ensembl
Innerchr7:101763594..101920490hg16UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38156939
hg19156939
hg18157077
hg16156897
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676625, nssv1675012, nssv1675256, nssv1675751, nssv1672071, nssv1674379, nssv1674066, nssv1676212, nssv1673835, nssv1675117, nssv1672532, nssv1672285, nssv1674824, nssv1674163, nssv1674080, nssv1674287, nssv1675126, nssv1676147, nssv1676450, nssv1674247, nssv1675546, nssv1675863, nssv1675694
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)nsv469682
Frequency
Sample Size265
Observed Gain3
Observed Loss20
Observed Complex0
Frequencyn/a


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