A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469853



Internal ID15534568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36387554..36574537hg38UCSC Ensembl
Innerchr17:34756124..34930376hg19UCSC Ensembl
Innerchr17:31830237..32004489hg18UCSC Ensembl
Innerchr17:34951674..35125926hg16UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38186984
hg19174253
hg18174253
hg16174253
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676600, nssv1675382, nssv1676086, nssv1676629, nssv1675202, nssv1672839, nssv1673289, nssv1674727, nssv1673899, nssv1673494
Samples
Known GenesGGNBP2, MYO19, PIGW, TBC1D3G, TBC1D3H, ZNHIT3
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)nsv469853
Frequency
Sample Size265
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer