A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469519



Internal ID15534234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:41519790..42585095hg38UCSC Ensembl
Innerchr9:42003173..42088781hg19UCSC Ensembl
Innerchr9:41993173..42078781hg18UCSC Ensembl
Innerchr9:63591132..63676740hg16UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg381065306
hg1985609
hg1885609
hg1685609
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675049, nssv1676282, nssv1675910, nssv1674337, nssv1672654, nssv1674171, nssv1675771, nssv1673991, nssv1674847
Samples
Known GenesKGFLP2, LOC643648
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)nsv469519
Frequency
Sample Size265
Observed Gain6
Observed Loss3
Observed Complex0
Frequencyn/a


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