A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469661



Internal ID15534376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18372658..18543063hg38UCSC Ensembl
Innerchr17:18275972..18446377hg19UCSC Ensembl
Innerchr17:18216697..18387102hg18UCSC Ensembl
Innerchr17:18476538..18646943hg16UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38170406
hg19170406
hg18170406
hg16170406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676617, nssv1672270, nssv1676367, nssv1675989, nssv1672202, nssv1673382, nssv1674719, nssv1674689, nssv1676433, nssv1673137, nssv1672669, nssv1673801, nssv1673761, nssv1674643, nssv1673723, nssv1672744, nssv1676529, nssv1675653, nssv1675552, nssv1673943, nssv1673052, nssv1676194, nssv1672443, nssv1674070, nssv1672639, nssv1676283, nssv1676286, nssv1674817, nssv1673279, nssv1675419, nssv1675664, nssv1673187, nssv1675603
Samples
Known GenesCCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, USP32P2
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)nsv469661
Frequency
Sample Size265
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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