A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469603



Internal ID15534318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85777953..85944682hg38UCSC Ensembl
Innerchr8:86805457..86956911hg19UCSC Ensembl
Innerchr8:86874898..87026027hg18UCSC Ensembl
Innerchr8:86762305..86913434hg16UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38166730
hg19151455
hg18151130
hg16151130
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674123, nssv1674730, nssv1672817, nssv1674590, nssv1673994, nssv1676027, nssv1673261, nssv1674132, nssv1675011, nssv1676207, nssv1674239, nssv1672699, nssv1675600, nssv1676609, nssv1674754, nssv1673702, nssv1672687, nssv1672562, nssv1673264, nssv1674301, nssv1674552, nssv1674011
Samples
Known GenesREXO1L2P
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)nsv469603
Frequency
Sample Size265
Observed Gain14
Observed Loss8
Observed Complex0
Frequencyn/a


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