A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469664



Internal ID15187693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72917499..73076135hg38UCSC Ensembl
Innerchr7:72388036..72490411hg19UCSC Ensembl
Innerchr7:72025972..72128347hg18UCSC Ensembl
Innerchr7:71800153..71902528hg16UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38158637
hg19102376
hg18102376
hg16102376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672742, nssv1673608, nssv1673109, nssv1676392, nssv1674451, nssv1673774
Samples
Known GenesLOC100101148, LOC541473, NSUN5P2, PMS2L2, PMS2P5, POM121, SPDYE8P, STAG3L1, STAG3L3, TRIM73, TRIM74
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)nsv469664
Frequency
Sample Size265
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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